Curator Name UniProt ID NCBI Gene ID Gene Name Species Name Taxonomy ID Data Type Data Value GO Term GO ID Uberon Term Uberon ID BRENDA Tissue Ontology Term BRENDA Tissue Ontology ID Anatomy Ontology Term Anatomy Ontology ID Phenotype Ontology Term Phenotype Ontology ID Developmental Stage Term (BRENDA) Developmental Stage ID (BRENDA) Cell Type Ontology Term (CTO or CL) Cell Type Ontology ID (CTO or CL) Cell Line Ontology Term (CLO) Cell Line Ontology ID (CLO) PATO Qualifier PATO ID OMIM ID Human Disease Ontology Term Human Disease Ontology ID SNOMED Term SNOMED ID ChEBI Chemical Term ChEBI Chemical ID Secondary Source IDs Secondary Source Notes Reviewed (Y/N) Use (Y/N) Evidence Code Primary Source Secondary Source PENTACON Notes Gene Set Secondary Source Version Date Secondary Source Version PENTACON Annotation No curatus P37023 94 ACVRL1 Homo sapiens 9606 Comment/alternative products/isoform P37023-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 149 1100000247 curatus P35318 133 ADM Homo sapiens 9606 Comment/alternative products/isoform P35318-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 123 1100000250 curatus P01019 183 AGT Homo sapiens 9606 Comment/alternative products/isoform P01019-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 162 1100000258 curatus P30556 185 AGTR1 Homo sapiens 9606 Comment/alternative products/isoform P30556-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 135 1100000259 curatus P50052 186 AGTR2 Homo sapiens 9606 Comment/alternative products/isoform P50052-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, AAE, ASD 4/3/2013 119 1100000260 curatus P31749 207 AKT1 Homo sapiens 9606 Comment/alternative products/isoform P31749-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 166 1100000263 curatus P15144 290 ANPEP Homo sapiens 9606 Comment/alternative products/isoform P15144-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 159 1100000269 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/alternative products/isoform P30411-1;Isoform Long Y Y UniProtKB full length BP, DGA, ASD 1100000291 curatus Q13873 659 BMPR2 Homo sapiens 9606 Comment/alternative products/isoform Q13873-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 148 1100000298 curatus P06881 796 CALCA Homo sapiens 9606 Comment/alternative products/isoform P01258-1;Isoform 1 Y Y UniProtKB full length BP, DGA, ASD 4/3/2013 134 1100000303 curatus Q03135 857 CAV1 Homo sapiens 9606 Comment/alternative products/isoform Q03135-1;Isoform 1 Y Y UniProtKB N ver_2full length DGA, BP 4/3/2013 151 1100000306 curatus P31327 1373 CPS1 Homo sapiens 9606 Comment/alternative products/isoform P31327-1;Isoform 1 Y Y UniProtKB full length BP, DGA, ASD 4/3/2013 155 1100000319 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Comment/alternative products/isoform P15538-1;Isoform 1 Y Y UniProtKB full length BP, DGA, ASD 4/3/2013 148 1100000339 curatus P19099 1585 CYP11B2 Homo sapiens 9606 Comment/alternative products/isoform P19099-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) DGA, BP 4/3/2013 148 1100000340 curatus P12821 1636 ACE Homo sapiens 9606 Comment/alternative products/isoform P12821-1;Isoform Somatic-1 Y Y UniProtKB full length BP, DGA, AAE, ASD 4/3/2013 172 1100000345 curatus P42892 1889 ECE1 Homo sapiens 9606 Comment/alternative products/isoform P42892-1;Isoform B Y Y UniProtKB full length BP, DGA, ASD 4/3/2013 136 1100000349 curatus P05305 1906 EDN1 Homo sapiens 9606 Comment/alternative products/isoform P05305-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, AAE, ASD 4/3/2013 151 1100000350 curatus P25101 1909 EDNRA Homo sapiens 9606 Comment/alternative products/isoform P25101-1;Isoform 1 Y Y UniProtKB full length BP, DGA, ASD 4/3/2013 136 1100000351 curatus P24530 1910 EDNRB Homo sapiens 9606 Comment/alternative products/isoform P24530-1;Isoform A Y Y UniProtKB full length BP, DGA, ASD 4/3/2013 155 1100000352 curatus P17813 2022 ENG Homo sapiens 9606 Comment/alternative products/isoform P17813-1;Isoform Long Y Y UniProtKB full length BP, DGA, ASD 4/3/2013 147 1100000353 curatus Q07075 2028 ENPEP Homo sapiens 9606 Comment/alternative products/isoform Q07075-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 135 1100000354 curatus P48506 2729 GCLC Homo sapiens 9606 Comment/alternative products/isoform P48506-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 121 1100000378 curatus O75197 4041 LRP5 Homo sapiens 9606 Comment/alternative products/isoform O75197-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) DGA, BP 4/3/2013 126 1100000447 curatus P29474 4846 NOS3 Homo sapiens 9606 Comment/alternative products/isoform P29474-1;Isoform 1 Y Y UniProtKB full length BP, DGA, ASD 4/3/2013 162 1100000469 curatus P01160 4878 NPPA Homo sapiens 9606 Comment/alternative products/isoform P01160-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 149 1100000472 curatus P37231 5468 PPARG Homo sapiens 9606 Comment/alternative products/isoform P37231-1;Isoform 2 Y Y UniProtKB full length BP, DGA, ASD 4/3/2013 184 1100000496 curatus P00797 5972 REN Homo sapiens 9606 Comment/alternative products/isoform P00797-1;Isoform 1 Y Y UniProtKB full length BP, DGA, ASD 4/3/2013 165 1100000509 curatus Q15848 9370 ADIPOQ Homo sapiens 9606 Comment/alternative products/isoform Q15848-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA 4/3/2013 136 1100000584 curatus Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/alternative products/isoform Q9Y5Q5-1;Isoform 1;hE1 Y Y UniProtKB full length DGA, BP 4/3/2013 123 1100000594 curatus Q9BYF1 59272 ACE2 Homo sapiens 9606 Comment/alternative products/isoform Q9BYF1-1;Isoform 1 Y Y UniProtKB full length BP, DGA, ASD 4/3/2013 114 1100000623 curatus P23946 1215 CMA1 Homo sapiens 9606 Comment/alternative products/isoform P23946-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 136 1100000778 curatus P30793 2643 GCH1 Homo sapiens 9606 Comment/alternative products/isoform P30793-1;Isoform GCH-1 Y Y ECO:0000006 PubMed:8068008 PubMed:9445252 PubMed:12176133 PubMed:16338639 PubMed:17057711 UniProtKB TBU TBU full length, functional protein, based on Comment/Function. BP, DGA, ASD 4/3/2013 145 1100000780 curatus P20800 1907 EDN2 Homo sapiens 9606 Comment/alternative products/isoform P20800-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, AAE 4/3/2013 128 1100001098 curatus P14138 1908 EDN3 Homo sapiens 9606 Comment/alternative products/isoform P14138-1;Isoform Long Y Y UniProtKB full length BP, ASD 4/3/2013 142 1100001099 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/alternative products/isoform P37231-3;Isoform 3;PPARgamma1(tr) VSP_003645 VSP_043906 VSP_043907 Exhibits dominant negative activity over isoform 1. Y Y UniProtKB TBU TBU BP, DGA, ASD 4/3/2013 184 1100001100 Faith P12821 1636 ACE Homo sapiens 9606 Comment/alternative products/isoform P12821-2;Isoform Somatic-2;Soluble VSP_029932 VSP_029933 Incomplete sequence. Y Y UniProtKB TBU TBU BP, DGA, AAE, ASD 4/3/2013 172 1100001101 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/alternative products/isoform Q03135-2;Isoform 2 VSP_018692 Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Y Y UniProtKB TBU DGA, BP 4/3/2013 151 1100001102 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/alternative products/isoform P29474-2;Isoform eNOS13C VSP_042625 VSP_042626 Lacks eNOS activity. Y Y UniProtKB TBU TBU BP, DGA, ASD 4/3/2013 162 1100001103 Faith P06881 796 CALCA Homo sapiens 9606 Comment/alternative products/isoform P01258-2;Isoform 2 May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Y Y UniProtKB TBU TBU BP, DGA, ASD 4/3/2013 134 1100001104 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/alternative products/isoform Q8IVI9-3;Isoform 3;NOSTRINbeta VSP_025884 May negatively regulate transcription of the NOSTRIN gene. Y Y UniProtKB BP, DGA 4/3/2013 101 1100001110 Rose P24530 1910 EDNRB Homo sapiens 9606 Comment/alternative products/isoform P24530-3;Isoform C;Delta-3 VSP_001878 Ref.10 (AAD24541) sequence is in conflict in positions: 79:SGHRTP->RPPDA. Y Y UniProtKB TBU TBU BP, DGA, ASD 4/3/2013 155 1100001113 curatus Q99571 5025 P2RX4 Homo sapiens 9606 Comment/alternative products/isoform Q99571-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP 4/3/2013 118 1100001114 curatus O75608 10434 LYPLA1 Homo sapiens 9606 Comment/alternative products/isoform O75608-1;Isoform 1 Y Y UniProtKB full length BP 4/3/2013 113 1100001116 curatus Q01970 5331 PLCB3 Homo sapiens 9606 Comment/alternative products/isoform Q01970-1;Isoform 1 Y Y UniProtKB full length BP 4/3/2013 130 1100001117 curatus P15088 1359 CPA3 Homo sapiens 9606 Comment/alternative products/isoform P15088-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP 4/3/2013 126 1100001119 curatus Q16568 9607 CARTPT Homo sapiens 9606 Comment/alternative products/isoform Q16568-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, ASD 4/3/2013 113 1100001120 curatus P08123 1278 COL1A2 Homo sapiens 9606 Comment/alternative products/isoform P08123-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 157 1100001121 curatus Q9Y314 51070 NOSIP Homo sapiens 9606 Comment/alternative products/isoform Q9Y314-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, UPS 4/3/2013 87 1100001122 curatus P48506 2730 GCLM Homo sapiens 9606 Comment/alternative products/isoform P48507-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 115 1100001123 curatus P28906 947 CD34 Homo sapiens 9606 Comment/alternative products/isoform P28906-1;Isoform CD34-F Y Y UniProtKB full length BP, DGA 4/3/2013 122 1100001124 curatus Q9UBR2 1522 CTSZ Homo sapiens 9606 Comment/alternative products/isoform Q9UBR2-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP 4/3/2013 124 1100001125 curatus Q13237 5593 PRKG2 Homo sapiens 9606 Comment/alternative products/isoform Q13237-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP 4/3/2013 118 1100001126 curatus O75787 10159 ATP6AP2 Homo sapiens 9606 Comment/alternative products/isoform O75787-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP 4/3/2013 115 1100001127 curatus P50570 1785 DNM2 Homo sapiens 9606 Comment/alternative products/isoform P50570-1;Isoform 1 Y Y UniProtKB full length BP 4/3/2013 137 1100001128 curatus P62158 801 CALM1 Homo sapiens 9606 Comment/alternative products/isoform P62158-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, ASD 4/3/2013 126 1100001129 curatus P08311 1511 CTSG Homo sapiens 9606 Comment/alternative products/isoform P08311-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, DGA, ASD 4/3/2013 134 1100001130 curatus Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/alternative products/isoform Q8IVI9-1;Isoform 1;NOSTRINalpha Y Y UniProtKB N ver_2full length BP, DGA 4/3/2013 101 1100001131 curatus P41595 3357 HTR2B Homo sapiens 9606 Comment/alternative products/isoform P41595-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, ASD 4/3/2013 126 1100001132 Faith P12821 1636 ACE Homo sapiens 9606 Comment/alternative products/isoform P12821-3;Isoform Testis-specific;ACE-T VSP_035120 VSP_035121 Y Y UniProtKB TBU BP, DGA, AAE, ASD 4/3/2013 172 1100001133 Faith P07900 3320 HSP90AA1 Homo sapiens 9606 Comment/alternative products/isoform P07900-2;Isoform 2;HSP90AA1-2 VSP_026604 Variant in position: 71:M->L (in dbSNP:rs8005905). Y Y UniProtKB TBU TBU BP, ASD 4/3/2013 178 1100001134 Rose O00401 8976 WASL Homo sapiens 9606 Comment/alternative products/isoform O00401-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP 4/3/2013 130 1100001135 Faith P00374 1719 DHFR Homo sapiens 9606 Comment/alternative products/isoform P00374-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, ASD 4/3/2013 151 1100001136 Mike P00797 5972 REN Homo sapiens 9606 Comment/alternative products/isoform P00797-2;Isoform 2 VSP_012899 Y Y UniProtKB BP, DGA, ASD 4/3/2013 165 1100001137 Faith P06881 796 CALCA Homo sapiens 9606 Comment/alternative products/isoform P06881-1;Isoform 3 Y Y UniProtKB BP, DGA, ASD 4/3/2013 134 1100001138 Faith P07900 3320 HSP90AA1 Homo sapiens 9606 Comment/alternative products/isoform P07900-1;Isoform 1;HSP90-alpha 2 Y Y UniProtKB full length BP, ASD 4/3/2013 178 1100001139 Rose P08473 4311 MME Homo sapiens 9606 Comment/alternative products/isoform P08473-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, ASD 4/3/2013 165 1100001140 Rose P14138 1908 EDN3 Homo sapiens 9606 Comment/alternative products/isoform P14138-2;Isoform Short VSP_001445 Y Y UniProtKB BP, ASD 4/3/2013 142 1100001141 Rose P14138 1908 EDN3 Homo sapiens 9606 Comment/alternative products/isoform P14138-3;Isoform 3 VSP_043139 Y Y UniProtKB BP, ASD 4/3/2013 142 1100001142 Mike P17813 2022 ENG Homo sapiens 9606 Comment/alternative products/isoform P17813-2;Isoform Short VSP_004233 Y Y UniProtKB BP, DGA, ASD 4/3/2013 147 1100001143 Rose P24530 1910 EDNRB Homo sapiens 9606 Comment/alternative products/isoform P24530-2;Isoform B VSP_001879 Y Y UniProtKB BP, DGA, ASD 4/3/2013 155 1100001144 Rose P25101 1909 EDNRA Homo sapiens 9606 Comment/alternative products/isoform P25101-2;Isoform 2;Delta-3 VSP_011059 VSP_011060 Y Y UniProtKB BP, DGA, ASD 4/3/2013 136 1100001145 Rose P25101 1909 EDNRA Homo sapiens 9606 Comment/alternative products/isoform P25101-3;Isoform 3;Delta-4 VSP_011062 VSP_011063 Y Y UniProtKB BP, DGA, ASD 4/3/2013 136 1100001146 Rose P25101 1909 EDNRA Homo sapiens 9606 Comment/alternative products/isoform P25101-4;Isoform 4;Delta-3,4 VSP_011061 Y Y UniProtKB BP, DGA, ASD 4/3/2013 136 1100001147 Rose P28906 947 CD34 Homo sapiens 9606 Comment/alternative products/isoform P28906-2;Isoform CD34-T VSP_004159 VSP_004160 Y Y UniProtKB BP, DGA 4/3/2013 122 1100001148 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/alternative products/isoform P29474-3;Isoform eNOS13B VSP_045495 VSP_045496 Y Y UniProtKB BP, DGA, ASD 4/3/2013 162 1100001149 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/alternative products/isoform P29475-2;Isoform 2;N-NOS-2 VSP_003574 Y Y UniProtKB BP, DGA, ASD 4/3/2013 148 1100001150 curatus P29475 4842 NOS1 Homo sapiens 9606 Comment/alternative products/isoform P29475-3;Isoform 3;TN-NOSB VSP_003571 Y Y UniProtKB BP, DGA, ASD 1100001151 curatus P29475 4842 NOS1 Homo sapiens 9606 Comment/alternative products/isoform P29475-4;Isoform 4;TEX2-insertion VSP_003572 VSP_003573 Y Y UniProtKB BP, DGA, ASD 1100001152 Mike P29475 4842 NOS1 Homo sapiens 9606 Comment/alternative products/isoform P29475-5;Isoform 5;nNOSmu VSP_044916 Y Y UniProtKB info copied from ""Tissue specifiity"" notes. BP, DGA, ASD 4/3/2013 148 1100001153 Rose P30047 2644 GCHFR Homo sapiens 9606 Comment/alternative products/isoform P30047-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP 4/3/2013 95 1100001154 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/alternative products/isoform P30793-2;Isoform GCH-2 VSP_001612 VSP_001613 Y Y UniProtKB 210-213: HMCM → SAEP; 214-250: Missing. BP, DGA, ASD 4/3/2013 145 1100001155 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/alternative products/isoform P30793-3;Isoform GCH-3 VSP_001610 Y Y UniProtKB 210-250: Missing. BP, DGA, ASD 4/3/2013 145 1100001156 Mike P30793 2643 GCH1 Homo sapiens 9606 Comment/alternative products/isoform P30793-4;Isoform GCH-4 VSP_001611 VSP_001614 Y Y UniProtKB 210-233: HMCMVMRGVQKMNSKTVTSTMLGV → KSNKYNKGLSPLLSSCHLFVAILK; 234-250: Missing. BP, DGA, ASD 4/3/2013 145 1100001157 Rose P31327 1373 CPS1 Homo sapiens 9606 Comment/alternative products/isoform P31327-2;Isoform 2 VSP_009332 Y Y UniProtKB BP, DGA, ASD 4/3/2013 155 1100001158 Faith P35270 6697 SPR Homo sapiens 9606 Comment/alternative products/isoform P35270-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, ASD 4/3/2013 137 1100001159 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/alternative products/isoform P37231-2;Isoform 1;PPARgamma1(wt) VSP_003645 Y Y UniProtKB BP, DGA, ASD 4/3/2013 184 1100001160 Rose P42892 1889 ECE1 Homo sapiens 9606 Comment/alternative products/isoform P42892-2;Isoform A VSP_005502 Y Y UniProtKB BP, DGA, ASD 4/3/2013 136 1100001161 Rose P42892 1889 ECE1 Homo sapiens 9606 Comment/alternative products/isoform P42892-3;Isoform C VSP_005504 Y Y UniProtKB BP, DGA, ASD 4/3/2013 136 1100001162 Rose P42892 1889 ECE1 Homo sapiens 9606 Comment/alternative products/isoform P42892-4;Isoform D VSP_005503 Y Y UniProtKB BP, DGA, ASD 4/3/2013 136 1100001163 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/alternative products/isoform P50570-2;Isoform 2 VSP_001325 Y Y UniProtKB BP 4/3/2013 137 1100001164 Faith P50570 1785 DNM2 Homo sapiens 9606 Comment/alternative products/isoform P50570-3;Isoform 3 VSP_044280 VSP_001325 Y Y UniProtKB BP 4/3/2013 137 1100001165 Faith Q03393 5805 PTS Homo sapiens 9606 Comment/alternative products/isoform Q03393-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP, ASD 4/3/2013 138 1100001166 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/alternative products/isoform Q8IVI9-2;Isoform 2 VSP_025885 Y Y UniProtKB BP, DGA 4/3/2013 101 1100001168 Rose Q8IVQ6 340481 ZDHHC21 Homo sapiens 9606 Comment/alternative products/isoform Q8IVQ6-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) BP 4/3/2013 75 1100001169 Mike Q92824 5125 PCSK5 Homo sapiens 9606 Comment/alternative products/isoform Q92824-1;Isoform PC6B;Long Y Y UniProtKB full length BP 4/3/2013 134 1100001170 Mike Q92824 5125 PCSK5 Homo sapiens 9606 Comment/alternative products/isoform Q92824-2;Isoform PC6A;Short VSP_042017 VSP_042018 Y Y UniProtKB BP 4/3/2013 134 1100001171 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Comment/alternative products/isoform Q9Y5Q5-2;Isoform 2;hE1a VSP_043952 Y Y UniProtKB DGA, BP 4/3/2013 123 1100001172 Jenn P01019 183 AGT Homo sapiens 9606 Comment/alternative products/isoform ;Angiotensin-2;AngII PRO_0000032458 Y Y ECO:0000311 Uniprot TBU BP, DGA, ASD 1100002088 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/alternative products/isoform P30411-2;Isoform Short VSP_001865 Y Y UniProtKB BP, DGA, ASD 1100003664 curatus P31327 1373 CPS1 Homo sapiens 9606 Comment/alternative products/isoform P31327-3;Isoform 3 VSP_046685 Y Y UniProtKB N ver_2 BP, DGA, ASD 1100007452 curatus P50570 1785 DNM2 Homo sapiens 9606 Comment/alternative products/isoform P50570-4;Isoform 4 VSP_044280 Y Y UniProtKB N ver_2 BP 1100007455 curatus Q99571 5025 P2RX4 Homo sapiens 9606 Comment/alternative products/isoform Q99571-3;Isoform 3 VSP_053813 Y Y UniProtKB N ver_2 BP 1100007484 curatus P48506 2730 GCLM Homo sapiens 9606 Comment/alternative products/isoform P48507-2;Isoform 2 VSP_057008 Y Y UniProtKB N ver_2 BP, DGA, ASD 1100007487 Mike Q07075 2028 ENPEP Homo sapiens 9606 Feature/sequence variant Q213R; In dbSNP:rs10004516. VAR_030359 rs10004516 Y Y ECO:0000269 PubMed:15489334 PubMed:15815621 PubMed:8244382 PubMed:8346219 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 135 3300009573 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/sequence variant V20M; In dbSNP:rs10152474. VAR_031262 rs10152474 Y Y UniProtKB BP, DGA, ASD 4/3/2013 159 3300009574 Faith P50052 186 AGTR2 Homo sapiens 9606 Feature/sequence variant C268W; In dbSNP:rs1042860. VAR_011850 rs1042860 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 119 3300009575 Mike Q99571 5025 P2RX4 Homo sapiens 9606 Feature/sequence variant A6S; In dbSNP:rs1044249. VAR_028307 rs1044249 Y Y ECO:0000269 PubMed:9016352 submission: submission: UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 118 3300009576 Rose P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T344S; In dbSNP:rs1047883. VAR_061752 rs1047883 Y Y UniProtKB BP, DGA, ASD 4/3/2013 155 3300009578 Rose P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant F1266S; In dbSNP:rs1047886. VAR_017566 rs1047886 Y Y ECO:0000269 PubMed:1840546 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300009579 Rose P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant M1283L; In dbSNP:rs1047887. VAR_017567 rs1047887 Y Y ECO:0000269 PubMed:1840546 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300009580 Faith P30556 185 AGTR1 Homo sapiens 9606 Feature/sequence variant C289W; In dbSNP:rs1064533. VAR_011847 rs1064533 Y Y ECO:0000269 PubMed:8135787 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 135 3300009583 Rose P42892 1889 ECE1 Homo sapiens 9606 Feature/sequence variant T341I; In dbSNP:rs1076669. VAR_011972 rs1076669 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300009584 Mike Q07075 2028 ENPEP Homo sapiens 9606 Feature/sequence variant V218A; In dbSNP:rs1126483. VAR_030360 rs1126483 Y Y ECO:0000269 PubMed:8346219 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 135 3300009585 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A1525V; In dbSNP:rs1127291. VAR_021225 rs1127291 Y Y ECO:0000269 PubMed:15024691 PubMed:9714764 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009586 Faith O75608 10434 LYPLA1 Homo sapiens 9606 Feature/sequence variant P153S; In dbSNP:rs11549448. VAR_060991 rs11549448 Y Y UniProtKB BP 4/3/2013 113 3300009587 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/sequence variant V167A; In dbSNP:rs11555433. VAR_051617 rs11555433 Y Y UniProtKB BP, DGA, ASD 4/3/2013 166 3300009588 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant E98K; In dbSNP:rs11568032. VAR_029166 rs11568032 Y Y UniProtKB BP, DGA, ASD 4/3/2013 162 3300009589 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant M268I; In dbSNP:rs11568053. VAR_029167 rs11568053 Y Y UniProtKB BP, DGA, ASD 4/3/2013 162 3300009590 Rose P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant A17T; In HSCR4; dbSNP:rs11570255. VAR_009078 rs11570255 Y Y ECO:0000269 PubMed:9359047 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 142 3300009591 Rose P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant A17T; In HSCR4; dbSNP:rs11570255. VAR_009078 rs11570255 Y Y ECO:0000269 PubMed:9359047 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 142 3300009593 Rose P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant A224T; In HSCR4; dbSNP:rs11570351. VAR_009079 rs11570351 Y Y ECO:0000269 PubMed:9359047 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 142 3300009595 Rose P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant A224T; In HSCR4; dbSNP:rs11570351. VAR_009079 rs11570351 Y Y ECO:0000269 PubMed:9359047 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 142 3300009597 Mike P00797 5972 REN Homo sapiens 9606 Feature/sequence variant Q160K; In dbSNP:rs11571083. VAR_029171 rs11571083 Y Y UniProtKB BP, DGA, ASD 4/3/2013 165 3300009599 Mike P00797 5972 REN Homo sapiens 9606 Feature/sequence variant R33W; In dbSNP:rs11571098. VAR_020375 rs11571098 Y Y UniProtKB BP, DGA, ASD 4/3/2013 165 3300009600 Mike P00797 5972 REN Homo sapiens 9606 Feature/sequence variant G217R; In dbSNP:rs11571117. VAR_020376 rs11571117 Y Y UniProtKB BP, DGA, ASD 4/3/2013 165 3300009601 Rose P20800 1907 EDN2 Homo sapiens 9606 Feature/sequence variant P168L; In dbSNP:rs11572371. VAR_018817 rs11572371 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, AAE 4/3/2013 128 3300009602 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant V1204L; In dbSNP:rs11607268. VAR_035208 rs11607268 Y Y UniProtKB DGA, BP 4/3/2013 126 3300009603 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/sequence variant H525R; In dbSNP:rs11934749. VAR_038001 rs11934749 Y Y ECO:0000269 PubMed:10329693 PubMed:15489334 PubMed:17918732 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300009604 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/sequence variant E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. VAR_055422 rs121434592 Y Y ECO:0000269 PubMed:17611497 PubMed:18954143 PubMed:19713527 PubMed:21793738 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300009605 Mike Q01970 5331 PLCB3 Homo sapiens 9606 Feature/sequence variant R483H; In dbSNP:rs12146487. VAR_029229 rs12146487 Y Y UniProtKB BP 4/3/2013 130 3300009609 Faith P15088 1359 CPA3 Homo sapiens 9606 Feature/sequence variant T171M; In dbSNP:rs12489516. VAR_033725 rs12489516 Y Y ECO:0000269 PubMed:15489334 PubMed:1629626 PubMed:1729276 PubMed:2594780 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 126 3300009611 Rose Q16568 9607 CARTPT Homo sapiens 9606 Feature/sequence variant L113M; In dbSNP:rs12517689. VAR_053022 rs12517689 Y Y UniProtKB BP, ASD 4/3/2013 113 3300009612 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant D592G; In dbSNP:rs12709426. VAR_020053 rs12709426 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 172 3300009613 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant T1187M; In dbSNP:rs12709442. VAR_023433 rs12709442 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 172 3300009614 Rose P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant P5T; In dbSNP:rs12720160. VAR_019285 rs12720160 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300009615 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant V524A; In dbSNP:rs12720746. VAR_029142 rs12720746 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 172 3300009616 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant A183T; In dbSNP:rs12720754. VAR_029140 rs12720754 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 172 3300009617 Faith P30556 185 AGTR1 Homo sapiens 9606 Feature/sequence variant A244S; In dbSNP:rs12721225. VAR_029207 rs12721225 Y Y UniProtKB BP, DGA, ASD 4/3/2013 135 3300009618 Faith P30556 185 AGTR1 Homo sapiens 9606 Feature/sequence variant A163T; In dbSNP:rs12721226. VAR_029206 rs12721226 Y Y UniProtKB BP, DGA, ASD 4/3/2013 135 3300009619 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/sequence variant D444G; In dbSNP:rs13105608. VAR_067796 rs13105608 Y Y UniProtKB DGA, BP 4/3/2013 123 3300009620 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant R379Q; In dbSNP:rs13306085. VAR_029141 rs13306085 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 172 3300009621 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant A154T; In dbSNP:rs13306087. VAR_029139 rs13306087 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 172 3300009622 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant M828T; In dbSNP:rs13306091. VAR_034602 rs13306091 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 172 3300009623 Faith P23946 1215 CMA1 Homo sapiens 9606 Feature/sequence variant R98H; In dbSNP:rs13306252. VAR_029190 rs13306252 Y Y UniProtKB BP, DGA, ASD 4/3/2013 136 3300009624 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant L344V; In dbSNP:rs16868573. VAR_055677 rs16868573 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300009626 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/sequence variant I603K; In dbSNP:rs17240212. VAR_031265 rs17240212 Y Y UniProtKB BP, DGA, ASD 4/3/2013 159 3300009627 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/sequence variant A311V; In dbSNP:rs17240268. VAR_031263 rs17240268 Y Y UniProtKB BP, DGA, ASD 4/3/2013 159 3300009628 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/sequence variant Y111H; In dbSNP:rs17366743. VAR_027396 rs17366743 Y Y ECO:0000269 PubMed:12354786 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300009629 Faith Q9Y314 51070 NOSIP Homo sapiens 9606 Feature/sequence variant T168M; In dbSNP:rs17850728. VAR_031169 rs17850728 Y Y ECO:0000269 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID BP, UPS 4/3/2013 87 3300009630 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant P335S; In dbSNP:rs17856352. VAR_035432 rs17856352 Y Y ECO:0000269 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300009631 Mike P48506 2730 GCLM Homo sapiens 9606 Feature/sequence variant I209M; In dbSNP:rs17880087. VAR_021063 rs17880087 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 115 3300009632 Mike P48506 2729 GCLC Homo sapiens 9606 Feature/sequence variant P462S; In dbSNP:rs17883718. VAR_021100 rs17883718 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 121 3300009633 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant T59P; In dbSNP:rs1800221. VAR_030116 rs1800221 Y Y ECO:0000269 PubMed:4011429 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009636 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant I249N; In dbSNP:rs1800228. VAR_001853 rs1800228 Y Y ECO:0000269 PubMed:2824475 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009637 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant A276T; In dbSNP:rs1800231. VAR_001854 rs1800231 Y Y ECO:0000269 PubMed:2824475 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009638 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant R822H; In dbSNP:rs1800240. VAR_001889 rs1800240 Y Y ECO:0000269 PubMed:8829649 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009639 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant T1148P; In OI3; dbSNP:rs1800250. VAR_001904 rs1800250 Y Y ECO:0000269 PubMed:8723681 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009640 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant P113Q; In obesity; dbSNP:rs1800571. VAR_010724 rs1800571 Y Y ECO:0000269 PubMed:9753710 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 184 3300009641 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant D366H; In dbSNP:rs1800956. VAR_014764 rs1800956 Y Y UniProtKB BP, DGA, ASD 4/3/2013 147 3300009643 Faith P30556 185 AGTR1 Homo sapiens 9606 Feature/sequence variant T336P; In dbSNP:rs1801021. VAR_011848 rs1801021 Y Y UniProtKB BP, DGA, ASD 4/3/2013 135 3300009644 Rose P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant G57S; Associated with increased susceptibility for Hirschsprung disease; sex-dependent gene dosage effect; dbSNP:rs1801710. VAR_003469 rs1801710 Y Y ECO:0000269 PubMed:11471546 PubMed:8630503 PubMed:8852660 PubMed:9760196 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300009646 Rose P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant G57S; Associated with increased susceptibility for Hirschsprung disease; sex-dependent gene dosage effect; dbSNP:rs1801710. VAR_003469 rs1801710 Y Y ECO:0000269 PubMed:11471546 PubMed:8630503 PubMed:8852660 PubMed:9760196 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300009648 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant I245N; In dbSNP:rs1804508. VAR_011717 rs1804508 Y Y UniProtKB BP, DGA, ASD 4/3/2013 149 3300009650 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant L392M; In dbSNP:rs1805090. VAR_014573 rs1805090 Y Y UniProtKB BP, DGA, ASD 4/3/2013 162 3300009651 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant P40A; In dbSNP:rs1805192. VAR_016116 rs1805192 Y Y UniProtKB BP, DGA, ASD 4/3/2013 184 3300009652 Faith P30556 185 AGTR1 Homo sapiens 9606 Feature/sequence variant L48V; In dbSNP:rs2011425. VAR_011846 rs2011425 Y Y UniProtKB BP, DGA, ASD 4/3/2013 135 3300009653 Mike P48506 2729 GCLC Homo sapiens 9606 Feature/sequence variant L55S; In dbSNP:rs2066512. VAR_014884 rs2066512 Y Y UniProtKB BP, DGA, ASD 4/3/2013 121 3300009654 Rose P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant R76M; In dbSNP:rs2228271. VAR_024255 rs2228271 Y Y UniProtKB BP, DGA, ASD 4/3/2013 155 3300009655 Rose Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant S775N; In dbSNP:rs2228545. VAR_019996 rs2228545 Y Y ECO:0000269 PubMed:17344846 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300009656 Faith P35318 133 ADM Homo sapiens 9606 Feature/sequence variant P85R; In dbSNP:rs2228573. VAR_048205 rs2228573 Y Y UniProtKB BP, DGA, ASD 4/3/2013 123 3300009657 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant G114C; In dbSNP:rs2229389. VAR_051939 rs2229389 Y Y UniProtKB BP, DGA, ASD 4/3/2013 162 3300009658 Rose P42892 1889 ECE1 Homo sapiens 9606 Feature/sequence variant W630R; In dbSNP:rs2229451. VAR_054007 rs2229451 Y Y UniProtKB BP, DGA, ASD 4/3/2013 136 3300009659 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant P351L; In dbSNP:rs2229839. VAR_023431 rs2229839 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 172 3300009660 Faith P15088 1359 CPA3 Homo sapiens 9606 Feature/sequence variant A81S; In dbSNP:rs2270523. VAR_048602 rs2270523 Y Y UniProtKB BP 4/3/2013 126 3300009661 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/sequence variant C13Y; In dbSNP:rs2289433. VAR_038000 rs2289433 Y Y ECO:0000269 PubMed:10329693 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300009662 Mike Q99571 5025 P2RX4 Homo sapiens 9606 Feature/sequence variant S242G; In dbSNP:rs25644. VAR_014942 rs25644 Y Y ECO:0000269 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 118 3300009663 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/sequence variant S752N; In dbSNP:rs25651. VAR_014737 rs25651 Y Y UniProtKB BP, DGA, ASD 4/3/2013 159 3300009664 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/sequence variant R86Q; In dbSNP:rs25653. VAR_014736 rs25653 Y Y ECO:0000269 PubMed:2564851 PubMed:2901990 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 159 3300009665 Rose P28906 947 CD34 Homo sapiens 9606 Feature/sequence variant A367S; In dbSNP:rs28362497. VAR_050774 rs28362497 Y Y UniProtKB BP, DGA 4/3/2013 122 3300009666 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant R181W; In CMO-2 deficiency; reduces 18-hydroxylase and abolishes 18-oxidase activities; leaves 11 beta-hydroxylase activity intact; dbSNP:rs28931609. VAR_001267 rs28931609 Y Y ECO:0000269 PubMed:1346492 PubMed:1594605 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 148 3300009667 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R411Q; In HHT2; retained in the endoplasmic reticulum; dbSNP:rs28936398. VAR_006213 rs28936398 Y Y ECO:0000269 PubMed:14684682 PubMed:15024723 PubMed:8640225 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300009673 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant M376R; In HHT2; dbSNP:rs28936399. VAR_006212 rs28936399 Y Y ECO:0000269 PubMed:8640225 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300009675 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant I398N; In HHT2; dbSNP:rs28936400. VAR_026805 rs28936400 Y Y ECO:0000269 PubMed:11170071 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300009677 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R374W; In HHT2; dbSNP:rs28936401. VAR_006211 rs28936401 Y Y ECO:0000269 PubMed:11170071 PubMed:14684682 PubMed:15712270 PubMed:9245985 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300009679 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant W399S; In HHT2; dbSNP:rs28936402. VAR_026806 rs28936402 Y Y ECO:0000269 PubMed:14684682 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300009681 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant Q314P; In colon cancer; sporadic; somatic mutation; loss of ligand-binding; dbSNP:rs28936407. VAR_010725 rs28936407 Y Y ECO:0000269 PubMed:10394368 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 184 3300009683 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant R316H; In colon cancer; sporadic; somatic mutation; partial loss of ligand-binding; dbSNP:rs28936407. VAR_010726 rs28936407 Y Y ECO:0000269 PubMed:10394368 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 184 3300009685 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant C344Y; In HHT2; retained in the endoplasmic reticulum; dbSNP:rs28936688. VAR_026798 rs28936688 Y Y ECO:0000269 PubMed:10767348 PubMed:14684682 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300009689 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant E1367K; In EVR4; autosomal recessive; dbSNP:rs28939709. VAR_021224 rs28939709 Y Y ECO:0000269 PubMed:15346351 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009691 Rose P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant H337R; In CPS1D; modestly decreases enzyme activity; dbSNP:rs28940283. VAR_014077 rs28940283 Y Y ECO:0000269 PubMed:11474210 PubMed:20578160 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300009693 Rose P42892 1889 ECE1 Homo sapiens 9606 Feature/sequence variant R754C; In HSCRCDAD; dbSNP:rs3026906. VAR_026747 rs3026906 Y Y ECO:0000269 PubMed:9915973 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300009695 Faith Q9UBR2 1522 CTSZ Homo sapiens 9606 Feature/sequence variant A286T; In dbSNP:rs34069356. VAR_033719 rs34069356 Y Y UniProtKB BP 4/3/2013 124 3300009698 Faith Q13237 5593 PRKG2 Homo sapiens 9606 Feature/sequence variant H106R; In dbSNP:rs34616910. VAR_040608 rs34616910 Y Y ECO:0000269 PubMed:17344846 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 118 3300009699 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T248I; In dbSNP:rs34620645. VAR_048462 rs34620645 Y Y UniProtKB BP, DGA, ASD 4/3/2013 148 3300009700 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant T137M; In dbSNP:rs34829218. VAR_035431 rs34829218 Y Y UniProtKB BP, DGA, ASD 4/3/2013 162 3300009701 Mike Q07075 2028 ENPEP Homo sapiens 9606 Feature/sequence variant R437H; In dbSNP:rs34949711. VAR_057056 rs34949711 Y Y UniProtKB BP, DGA, ASD 4/3/2013 135 3300009703 Faith Q13237 5593 PRKG2 Homo sapiens 9606 Feature/sequence variant T22S; In dbSNP:rs34956759. VAR_051633 rs34956759 Y Y UniProtKB BP 4/3/2013 118 3300009704 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant T5M; In dbSNP:rs35400405. VAR_005192 rs35400405 Y Y ECO:0000269 PubMed:9245986 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300009705 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Feature/sequence variant A290P; In dbSNP:rs35798522. VAR_051314 rs35798522 Y Y UniProtKB BP 4/3/2013 115 3300009707 Mike Q07075 2028 ENPEP Homo sapiens 9606 Feature/sequence variant S861R; In dbSNP:rs35812243. VAR_057057 rs35812243 Y Y UniProtKB BP, DGA, ASD 4/3/2013 135 3300009708 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant V270I; In dbSNP:rs368468. VAR_030118 rs368468 Y Y ECO:0000269 PubMed:9443882 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009709 Faith P50052 186 AGTR2 Homo sapiens 9606 Feature/sequence variant Y231H; In dbSNP:rs3729977. VAR_049374 rs3729977 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 119 3300009710 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant Y244C; In dbSNP:rs3730025. VAR_023430 rs3730025 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 172 3300009711 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant T916M; In dbSNP:rs3730043. VAR_023432 rs3730043 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 172 3300009712 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A1330V; In dbSNP:rs3736228. VAR_021817 rs3736228 Y Y ECO:0000269 PubMed:12509515 PubMed:12579474 PubMed:14727154 PubMed:15077203 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009713 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant P263L; In dbSNP:rs3745674. VAR_031961 rs3745674 Y Y UniProtKB BP 4/3/2013 137 3300009714 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant S1198P; In dbSNP:rs384487. VAR_001906 rs384487 Y Y ECO:0000269 PubMed:2824475 PubMed:6687691 PubMed:9443882 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009717 Mike P29474 4846 NOS3 Homo sapiens 9606 Feature/sequence variant R112Q; In dbSNP:rs3918166. VAR_031218 rs3918166 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300009718 Mike P29474 4846 NOS3 Homo sapiens 9606 Feature/sequence variant R885M; In dbSNP:rs3918201. VAR_031220 rs3918201 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300009719 Mike P29474 4846 NOS3 Homo sapiens 9606 Feature/sequence variant V827M; In dbSNP:rs3918232. VAR_031219 rs3918232 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300009720 Mike P29474 4846 NOS3 Homo sapiens 9606 Feature/sequence variant Q982L; In dbSNP:rs3918234. VAR_031221 rs3918234 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300009721 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant L1022F; In dbSNP:rs392609. VAR_001898 rs392609 Y Y ECO:0000269 PubMed:2824475 PubMed:6687691 PubMed:9443882 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009722 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant A743G; In dbSNP:rs408535. VAR_001880 rs408535 Y Y ECO:0000269 PubMed:2824475 PubMed:3421913 PubMed:9443882 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009723 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant P678H; In dbSNP:rs409108. VAR_030121 rs409108 Y Y ECO:0000269 PubMed:2824475 PubMed:3421913 PubMed:6687691 PubMed:9016532 PubMed:9443882 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009724 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant L43F; Associated with susceptibility to pre-eclampsia; alters the reactions with renin and angiotensin-converting enzyme; dbSNP:rs41271499. VAR_022933 rs41271499 Y Y ECO:0000269 PubMed:7744780 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300009725 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant N528S; In dbSNP:rs41317144. VAR_033040 rs41317144 Y Y ECO:0000269 PubMed:18272325 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009733 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant A564T; In dbSNP:rs41317153. VAR_033041 rs41317153 Y Y ECO:0000269 PubMed:18272325 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009734 Faith P62158 801 CALM1 Homo sapiens 9606 Feature/sequence variant M73T; In dbSNP:rs41389749. VAR_048585 rs41389749 Y Y UniProtKB BP, ASD 4/3/2013 126 3300009735 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant A483V; In dbSNP:rs414408. VAR_030119 rs414408 Y Y ECO:0000269 PubMed:2824475 PubMed:9443882 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009736 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant Q89R; In dbSNP:rs41494349. VAR_021806 rs41494349 Y Y ECO:0000269 PubMed:12579474 PubMed:14727154 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009737 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant Q1354H; In dbSNP:rs418570. VAR_030122 rs418570 Y Y ECO:0000269 PubMed:2364107 PubMed:2824475 PubMed:6092353 PubMed:6309769 PubMed:6687691 PubMed:9016532 PubMed:9443882 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009738 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant D1189E; In dbSNP:rs422361. VAR_001905 rs422361 Y Y ECO:0000269 PubMed:2824475 PubMed:6687691 PubMed:9443882 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009739 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant P549A; In dbSNP:rs42524. VAR_001867 rs42524 Y Y ECO:0000269 PubMed:15489334 PubMed:18272325 PubMed:18996919 PubMed:2824475 PubMed:2839839 PubMed:8456808 PubMed:9016532 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009740 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant R260C; In dbSNP:rs4302. VAR_054000 rs4302 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 172 3300009741 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant R260L; In dbSNP:rs4303. VAR_054001 rs4303 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 172 3300009742 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant A261S; In dbSNP:rs4303. VAR_011707 rs4303 Y Y ECO:0000269 PubMed:10319862 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 172 3300009743 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant R561W; In dbSNP:rs4314. VAR_011708 rs4314 Y Y ECO:0000269 PubMed:10319862 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 172 3300009744 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant R1286S; In dbSNP:rs4364. VAR_011709 rs4364 Y Y ECO:0000269 PubMed:10319862 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 172 3300009745 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant N281S; In dbSNP:rs4537. VAR_014154 rs4537 Y Y ECO:0000269 PubMed:10391209 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 148 3300009747 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant K173R; In dbSNP:rs4539. VAR_014639 rs4539 Y Y UniProtKB BP, DGA, ASD 4/3/2013 148 3300009748 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant K173R; In dbSNP:rs4539. VAR_001266 rs4539 Y Y ECO:0000269 PubMed:10391209 PubMed:10391210 PubMed:9931115 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 148 3300009749 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant A386V; In dbSNP:rs4541. VAR_014150 rs4541 Y Y ECO:0000269 PubMed:10391209 PubMed:20089618 PubMed:2401360 PubMed:3499608 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 148 3300009750 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant I339T; In dbSNP:rs4544. VAR_014155 rs4544 Y Y ECO:0000269 PubMed:10391209 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 148 3300009753 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant G435S; In dbSNP:rs4545. VAR_014156 rs4545 Y Y ECO:0000269 PubMed:10391209 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 148 3300009754 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant I248T; In dbSNP:rs4547. VAR_014153 rs4547 Y Y ECO:0000269 PubMed:10391209 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 148 3300009755 Faith P08311 1511 CTSG Homo sapiens 9606 Feature/sequence variant N125S; In dbSNP:rs45567233. VAR_006491 rs45567233 Y Y ECO:0000269 PubMed:8454293 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 134 3300009756 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/sequence variant K26R; In dbSNP:rs4646116. VAR_023082 rs4646116 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 114 3300009757 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant T207M; Associated with hypertension; dbSNP:rs4762. VAR_007093 rs4762 Y Y ECO:0000269 PubMed:1394429 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300009758 Faith Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Feature/sequence variant G473E; In dbSNP:rs479661. VAR_032569 rs479661 Y Y ECO:0000269 PubMed:12446846 PubMed:14702039 PubMed:15489334 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 101 3300009760 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant I1018T; In dbSNP:rs4976. VAR_014189 rs4976 Y Y ECO:0000269 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 172 3300009761 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant F1051V; In dbSNP:rs4977. VAR_014190 rs4977 Y Y ECO:0000269 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 172 3300009762 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant R1279Q; In dbSNP:rs4980. VAR_014191 rs4980 Y Y ECO:0000269 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 172 3300009763 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant Q1296P; In dbSNP:rs4981. VAR_014192 rs4981 Y Y ECO:0000269 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 172 3300009764 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant V667M; In dbSNP:rs4988321. VAR_021816 rs4988321 Y Y ECO:0000269 PubMed:11719191 PubMed:12579474 PubMed:15077203 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009765 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R404H; In dbSNP:rs4998896. VAR_048463 rs4998896 Y Y UniProtKB BP, DGA, ASD 4/3/2013 148 3300009766 Faith P35318 133 ADM Homo sapiens 9606 Feature/sequence variant S50R; In dbSNP:rs5005. VAR_014861 rs5005 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 123 3300009767 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant L244R; Associated with susceptibility to hypertension; dbSNP:rs5041. VAR_007095 rs5041 Y Y ECO:0000269 PubMed:7607642 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300009768 Mike P01160 4878 NPPA Homo sapiens 9606 Feature/sequence variant V32M; In dbSNP:rs5063. VAR_014579 rs5063 Y Y UniProtKB BP, DGA, ASD 4/3/2013 149 3300009770 Faith P50052 186 AGTR2 Homo sapiens 9606 Feature/sequence variant R248K; In dbSNP:rs5191. VAR_011849 rs5191 Y Y ECO:0000269 PubMed:12089445 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 119 3300009771 Faith P06881 796 CALCA Homo sapiens 9606 Feature/sequence variant N57D; In dbSNP:rs5239. VAR_048584 rs5239 Y Y ECO:0000269 PubMed:2571128 PubMed:3872459 PubMed:6148938 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 134 3300009772 Faith P23946 1215 CMA1 Homo sapiens 9606 Feature/sequence variant G46R; In dbSNP:rs5246. VAR_011770 rs5246 Y Y UniProtKB BP, DGA, ASD 4/3/2013 136 3300009773 Faith P23946 1215 CMA1 Homo sapiens 9606 Feature/sequence variant H66R; In dbSNP:rs5247. VAR_011771 rs5247 Y Y ECO:0000269 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300009774 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant D63H; In dbSNP:rs5282. VAR_014638 rs5282 Y Y UniProtKB BP, DGA, ASD 4/3/2013 148 3300009775 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant M160I; In dbSNP:rs5287. VAR_014147 rs5287 Y Y ECO:0000269 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300009776 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant F257L; In dbSNP:rs5288. VAR_014640 rs5288 Y Y UniProtKB BP, DGA, ASD 4/3/2013 148 3300009777 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant S281N; In dbSNP:rs5291. VAR_014641 rs5291 Y Y UniProtKB BP, DGA, ASD 4/3/2013 148 3300009778 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant L293V; In dbSNP:rs5292. VAR_014148 rs5292 Y Y ECO:0000269 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300009779 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant Y439H; In dbSNP:rs5294. VAR_014642 rs5294 Y Y UniProtKB BP, DGA, ASD 4/3/2013 148 3300009780 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant N222T; In dbSNP:rs5308. VAR_014643 rs5308 Y Y UniProtKB DGA, BP 4/3/2013 148 3300009781 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant E383V; In dbSNP:rs5312. VAR_014644 rs5312 Y Y UniProtKB DGA, BP 4/3/2013 148 3300009782 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant V403E; In dbSNP:rs5315. VAR_014645 rs5315 Y Y UniProtKB DGA, BP 4/3/2013 148 3300009783 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant F487V; In dbSNP:rs5317. VAR_014646 rs5317 Y Y UniProtKB DGA, BP 4/3/2013 148 3300009784 Rose P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant L7Q; In dbSNP:rs5345. VAR_014675 rs5345 Y Y UniProtKB BP, DGA, ASD 4/3/2013 155 3300009785 Rose P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant L17F; In dbSNP:rs5346. VAR_014676 rs5346 Y Y UniProtKB BP, DGA, ASD 4/3/2013 155 3300009786 Rose P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant F112V; In dbSNP:rs5347. VAR_014677 rs5347 Y Y UniProtKB BP, DGA, ASD 4/3/2013 155 3300009787 Rose P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant T244M; In dbSNP:rs5350. VAR_014678 rs5350 Y Y UniProtKB BP, DGA, ASD 4/3/2013 155 3300009788 Rose P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant S305N; In HSCR2; familial; dbSNP:rs5352. VAR_003472 rs5352 Y Y ECO:0000269 PubMed:8852659 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300009789 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant Y281C; Associated with susceptibility to hypertension; alters the structure, glycosylation and secretion of angiotensinogen; dbSNP:rs56073403. VAR_007097 rs56073403 Y Y ECO:0000269 PubMed:1394429 PubMed:7607642 PubMed:8621667 UniProtKB UPDATE ver_2 Changes in: EVID alters glycosylation and secretion of angiotensinogen BP, DGA, ASD 4/3/2013 162 3300009792 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant G354R; In dbSNP:rs56394458. VAR_035434 rs56394458 Y Y ECO:0000269 PubMed:16116425 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 172 3300009794 Rose P20800 1907 EDN2 Homo sapiens 9606 Feature/sequence variant F131L; In dbSNP:rs5798. VAR_033914 rs5798 Y Y UniProtKB BP, AAE 4/3/2013 128 3300009795 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant C10Y; In dbSNP:rs6405. VAR_014145 rs6405 Y Y ECO:0000269 PubMed:10391209 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300009796 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant A348T; In dbSNP:rs6407. VAR_014149 rs6407 Y Y ECO:0000269 PubMed:10391209 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300009797 Faith P05305 1906 EDN1 Homo sapiens 9606 Feature/sequence variant V186I; In dbSNP:rs6413478. VAR_048933 rs6413478 Y Y UniProtKB BP, DGA, AAE, ASD 4/3/2013 151 3300009798 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant A29T; In dbSNP:rs6438. VAR_014151 rs6438 Y Y ECO:0000269 PubMed:10391209 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 148 3300009799 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant R30Q; In dbSNP:rs6441. VAR_014152 rs6441 Y Y ECO:0000269 PubMed:10391209 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 148 3300009800 Mike P41595 3357 HTR2B Homo sapiens 9606 Feature/sequence variant M421V; In dbSNP:rs6736017. VAR_055907 rs6736017 Y Y UniProtKB BP, ASD 4/3/2013 126 3300009801 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant M268T; Associated with essential hypertension and pre-eclampsia; dbSNP:rs699. VAR_007096 rs699 Y Y ECO:0000269 PubMed:1394429 PubMed:8513325 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300009802 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant M268T; Associated with essential hypertension and pre-eclampsia; dbSNP:rs699. VAR_007096 rs699 Y Y ECO:0000269 PubMed:1394429 PubMed:8513325 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300009804 Mike P41595 3357 HTR2B Homo sapiens 9606 Feature/sequence variant F173L; In dbSNP:rs77570025. VAR_064575 rs77570025 Y Y ECO:0000269 PubMed:21179162 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 126 3300009806 Mike P29474 4846 NOS3 Homo sapiens 9606 Feature/sequence variant R665H; In dbSNP:rs7792133. VAR_061377 rs7792133 Y Y UniProtKB BP, DGA, ASD 4/3/2013 162 3300009807 Mike P41595 3357 HTR2B Homo sapiens 9606 Feature/sequence variant R388W; In dbSNP:rs77982984. VAR_064576 rs77982984 Y Y ECO:0000269 PubMed:21179162 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 126 3300009808 Mike P41595 3357 HTR2B Homo sapiens 9606 Feature/sequence variant Q45E; In dbSNP:rs78484969. VAR_064574 rs78484969 Y Y ECO:0000269 PubMed:21179162 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 126 3300009809 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/sequence variant T321M; In dbSNP:rs8179199. VAR_031264 rs8179199 Y Y UniProtKB BP, DGA, ASD 4/3/2013 159 3300009810 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/sequence variant I603M; In dbSNP:rs8192297. VAR_031266 rs8192297 Y Y ECO:0000269 PubMed:2901990 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 159 3300009811 Rose O75787 10159 ATP6AP2 Homo sapiens 9606 Feature/sequence variant P90A; In dbSNP:rs9014. VAR_051313 rs9014 Y Y UniProtKB BP 4/3/2013 115 3300009812 Mike P29475 4842 NOS1 Homo sapiens 9606 Feature/sequence variant P228S; In dbSNP:rs9658279. VAR_018948 rs9658279 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300009814 Mike P29475 4842 NOS1 Homo sapiens 9606 Feature/sequence variant D394A; In dbSNP:rs9658356. VAR_018949 rs9658356 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300009815 Mike P29475 4842 NOS1 Homo sapiens 9606 Feature/sequence variant N725D; In dbSNP:rs9658403. VAR_018950 rs9658403 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300009816 Mike P29475 4842 NOS1 Homo sapiens 9606 Feature/sequence variant G864D; In dbSNP:rs9658445. VAR_018951 rs9658445 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300009817 Mike P29475 4842 NOS1 Homo sapiens 9606 Feature/sequence variant Q1064R; In dbSNP:rs9658482. VAR_018952 rs9658482 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300009818 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant L20LL; VAR_021805 Y Y ECO:0000269 PubMed:12579474 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009822 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A29T; In primary osteoporosis. VAR_063941 Y Y ECO:0000269 PubMed:15824851 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009823 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant D111Y; In OPTA1. VAR_021807 Y Y ECO:0000269 PubMed:12579474 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009826 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant L145F; In EVR4. VAR_063943 Y Y ECO:0000269 PubMed:15981244 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009828 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R154M; In HBM. VAR_063944 Y Y ECO:0000269 PubMed:15824861 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009830 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant G171R; In OPTA1. VAR_021808 Y Y ECO:0000269 PubMed:12579474 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009832 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant D203N; In OPPG. VAR_063945 Y Y ECO:0000269 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009839 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A214T; In WENHY. VAR_021810 Y Y ECO:0000269 PubMed:12579474 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009841 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A214V; In WENHY. VAR_021811 Y Y ECO:0000269 PubMed:12579474 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009843 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A242T; In OPTA1, VBCH2 and WENHY. VAR_021812 Y Y ECO:0000269 PubMed:12579474 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009845 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A242T; In OPTA1, VBCH2 and WENHY. VAR_021812 Y Y ECO:0000269 PubMed:12579474 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009847 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A242T; In OPTA1, VBCH2 and WENHY. VAR_021812 Y Y ECO:0000269 PubMed:12579474 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009849 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T253I; In OPTA1. VAR_021813 Y Y ECO:0000269 PubMed:12579474 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009853 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant S307F; In OPPG. VAR_063947 Y Y ECO:0000269 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009857 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R348W; In OPPG. VAR_063948 Y Y ECO:0000269 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009859 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R353Q; In OPPG. VAR_063949 Y Y ECO:0000269 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009861 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A400E; In OPPG. VAR_063952 Y Y ECO:0000269 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009869 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T409A; In OPPG. VAR_063954 Y Y ECO:0000269 PubMed:18602879 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009873 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant E441K; In EVR4. VAR_063956 Y Y ECO:0000269 PubMed:20340138 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009877 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R444C; In EVR4; associated in a EVR1 patient with mutation GLN-417 in FZD4. VAR_063957 Y Y ECO:0000269 PubMed:15981244 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009879 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant S455L; In idiopathic osteoporosis; shows an inhibitory effect on Wnt signal transduction. VAR_063958 Y Y ECO:0000269 PubMed:16234968 UniProtKB UPDATE ver_2 Changes in: EVID f/u on phenotype DGA, BP 4/3/2013 126 3300009881 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant E460K; In OPPG. VAR_063959 Y Y ECO:0000269 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009883 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant W478R; In OPPG. VAR_063960 Y Y ECO:0000269 PubMed:16679074 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009885 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R494Q; In OPPG. VAR_021814 Y Y ECO:0000269 PubMed:11719191 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009887 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant W504C; In OPPG. VAR_063961 Y Y ECO:0000269 PubMed:16679074 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009889 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant D511A; In EVR4. VAR_063962 Y Y ECO:0000269 PubMed:19324841 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009891 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A522T; In EVR4. VAR_063964 Y Y ECO:0000269 PubMed:15981244 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009895 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant N531I; In OPPG. VAR_063965 Y Y ECO:0000269 PubMed:17437160 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009897 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T535M; In EVR4; autosomal recessive. VAR_063966 Y Y ECO:0000269 PubMed:15981244 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009899 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant G550R; In EVR4; autosomal recessive. VAR_063967 Y Y ECO:0000269 PubMed:16929062 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009901 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R570Q; In EVR4; autosomal recessive; has significantly reduced Wnt or Norrin signal transduction. VAR_021222 Y Y ECO:0000269 PubMed:15346351 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID f/u on phenotype DGA, BP 4/3/2013 126 3300009903 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R570W; In OPPG. VAR_021815 Y Y ECO:0000269 PubMed:11719191 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009905 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant F617C; In EVR4; autosomal recessive. VAR_063969 Y Y ECO:0000269 PubMed:15981244 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009911 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant D683N; In OPPG. VAR_063970 Y Y ECO:0000269 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009913 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant Y733H; In OPPG. VAR_063971 Y Y ECO:0000269 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009915 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R752G; In EVR4; autosomal recessive. VAR_021223 Y Y ECO:0000269 PubMed:15346351 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009917 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R805W; In EVR4. VAR_063973 Y Y ECO:0000269 PubMed:19324841 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009921 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant D1099Y; In OPPG. VAR_063975 Y Y ECO:0000269 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009925 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R1113C; In OPPG. VAR_063976 Y Y ECO:0000269 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009927 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant Y1168H; In EVR4; an individual with total retinal detachment and retinoschisis; is unable to transduce Wnt or Norrin signal transduction. VAR_018466 Y Y ECO:0000269 PubMed:15024691 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID f/u: retinoschisis DGA, BP 4/3/2013 126 3300009931 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant C1253F; In EVR4. VAR_063978 Y Y ECO:0000269 PubMed:20340138 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009933 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant C1361G; In EVR4; autosomal dominant; has mildly reduced Wnt or Norrin signal transduction. VAR_018467 Y Y ECO:0000269 PubMed:15024691 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID f/u on phenotype DGA, BP 4/3/2013 126 3300009935 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant G1401D; In OPPG. VAR_063979 Y Y ECO:0000269 PubMed:16252235 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009937 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A1537T; Could be associated with idiopathic osteoporosis; does not result in a significant alteration of Wnt signal transduction. VAR_063980 Y Y ECO:0000269 PubMed:16234968 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 126 3300009939 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/mutagenesis site L23{FWY}; Decreases affinity for NADP and dihydrofolate over 10-fold. Y Y ECO:0000269 PubMed:15681865 PubMed:7890613 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 151 3300009942 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/mutagenesis site L23R; Strongly decreased affinity for methotrexate. Decreases catalytic rate constant 200-fold. Decreases affinity for NADP and dihydrofolate over 10-fold. Y Y ECO:0000269 PubMed:15681865 PubMed:7890613 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 151 3300009943 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/mutagenesis site F32R; Reduces catalytic rate 5-fold. Reduces affinity for dihydrofolate 9-fold; when associated with E-36. Y Y ECO:0000269 PubMed:19478082 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 151 3300009944 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/mutagenesis site Q36E; Reduces catalytic rate 2-fold. Reduces affinity for dihydrofolate 9-fold; when associated with R-32. Y Y ECO:0000269 PubMed:15039552 PubMed:19196009 PubMed:19478082 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 151 3300009945 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/mutagenesis site Q36K; Increases affinity for dihydrofolate about 3-fold. Reduces affinity for NADPH about 3-fold. Y Y ECO:0000269 PubMed:15039552 PubMed:19196009 PubMed:19478082 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 151 3300009946 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/mutagenesis site Q36S; Increases affinity for dihydrofolate about 2-fold. No effect on affinity for NADPH. Y Y ECO:0000269 PubMed:15039552 PubMed:19196009 PubMed:19478082 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 151 3300009947 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/mutagenesis site N65F; Increases affinity for dihydrofolate about 3-fold. No effect on affinity for NADPH. Y Y ECO:0000269 PubMed:15039552 PubMed:19196009 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 151 3300009948 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/mutagenesis site N65S; Increases affinity for dihydrofolate about 15-fold. No effect on affinity for NADPH. Y Y ECO:0000269 PubMed:15039552 PubMed:19196009 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 151 3300009949 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/sequence variant L80F; In DHFRD. VAR_065818 Y Y ECO:0000269 PubMed:21310276 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 151 3300009950 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/sequence variant D153V; In DHFRD. VAR_065819 Y Y ECO:0000269 PubMed:21310277 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 151 3300009951 Mike P00797 5972 REN Homo sapiens 9606 Feature/sequence variant L16R; In HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion. VAR_063770 Y Y ECO:0000269 PubMed:19664745 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 165 3300009952 Mike P00797 5972 REN Homo sapiens 9606 Feature/sequence variant D104N; In RTD. VAR_035088 Y Y ECO:0000269 PubMed:16116425 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 165 3300009953 Mike P00797 5972 REN Homo sapiens 9606 Feature/sequence variant R230K; In RTD. VAR_035087 Y Y ECO:0000269 PubMed:16116425 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 165 3300009955 Faith P00797 5972 REN Homo sapiens 9606 Feature/splice variant P00797-2;Isoform 2;Position 231-233:Missing;In isoform 2. VSP_012899 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 165 3300009957 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant T242I; Associated with susceptibility to hypertension. VAR_007094 Y Y ECO:0000269 PubMed:7607642 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300009958 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant R375Q; In RTD. VAR_035433 Y Y ECO:0000269 PubMed:16116425 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300009960 Mike P01160 4878 NPPA Homo sapiens 9606 Feature/mutagenesis site R123G; Loss of cleavage by CORIN. Y Y ECO:0000269 PubMed:10880574 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300009963 Faith P07900 3320 HSP90AA1 Homo sapiens 9606 Feature/mutagenesis site G97D; Abolishes ATPase activity. Y Y ECO:0000269 PubMed:18256191 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 178 3300009965 Faith P07900 3320 HSP90AA1 Homo sapiens 9606 Feature/mutagenesis site C598{AND}; Reduces ATPase activity and client protein activation. Y Y ECO:0000269 PubMed:15937123 PubMed:19696785 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 178 3300009966 Faith P07900 3320 HSP90AA1 Homo sapiens 9606 Feature/mutagenesis site C598S; Loss of S-nitrosylation. Y Y ECO:0000269 PubMed:15937123 PubMed:19696785 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 178 3300009967 Faith P07900 3320 HSP90AA1 Homo sapiens 9606 Feature/splice variant P07900-2;Isoform 2;HSP90AA1-2;Position 1:M->MPPCSGGDGSTPPGPSLRDRDCPAQSAEYPRDRLDPRPGSPSEASSPPFLRSRAPVNWYQEKAQVFLWHLMVSGSTTLLCLWKQPFHVSAFPVTASLAFRQSQGAGQHLYKDLQPFILLRLLM;In isoform 2. VSP_026604 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 178 3300009968 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G193S; In OI4. VAR_063343 Y Y ECO:0000269 PubMed:16879195 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009977 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G193S; In OI4. VAR_063343 Y Y ECO:0000269 PubMed:16879195 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009979 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G202R; In OI4. VAR_063344 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009981 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G202R; In OI4. VAR_063344 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009983 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G211D; In OI1. VAR_001852 Y Y ECO:0000269 PubMed:8829649 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009985 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G211D; In OI1. VAR_001852 Y Y ECO:0000269 PubMed:8829649 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009987 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant R234C; In OI2. VAR_063345 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009989 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant R234C; In OI2. VAR_063345 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009991 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G247R; In OI1. VAR_063346 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009993 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G247R; In OI1. VAR_063346 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009995 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G253D; In OI2. VAR_063347 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009997 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G253D; In OI2. VAR_063347 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300009999 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G256V; In OI4. VAR_063348 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010001 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G256V; In OI4. VAR_063348 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010003 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G283R; In OI2. VAR_063349 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010005 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G283R; In OI2. VAR_063349 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010007 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G319R; In OI1. VAR_063350 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010009 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G319R; In OI1. VAR_063350 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010011 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G325E; In OI4. VAR_063351 Y Y ECO:0000269 PubMed:16705691 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010013 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G325E; In OI4. VAR_063351 Y Y ECO:0000269 PubMed:16705691 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010015 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G328S; In OI1, OI3 AND OI4. VAR_001855 Y Y ECO:0000269 PubMed:16705691 PubMed:7860070 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010017 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G328S; In OI1, OI3 AND OI4. VAR_001855 Y Y ECO:0000269 PubMed:16705691 PubMed:7860070 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010019 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G328S; In OI1, OI3 AND OI4. Y Y PENTACON BP, DGA, ASD 4/21/2014 3 3300010021 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G328S; In OI1, OI3 AND OI4. Y Y PENTACON BP, DGA, ASD 4/21/2014 3 3300010023 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G328S; In OI1, OI3 AND OI4. Y Y PENTACON BP, DGA, ASD 4/21/2014 3 3300010025 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G328S; In OI1, OI3 AND OI4. Y Y PENTACON BP, DGA, ASD 4/21/2014 3 3300010027 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G331D; In OI3. VAR_008119 Y Y ECO:0000269 PubMed:10408781 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010029 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G331D; In OI3. VAR_008119 Y Y ECO:0000269 PubMed:10408781 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010031 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G334C; In OI2. VAR_001856 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010033 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G334C; In OI2. VAR_001856 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010035 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G337C; In OI3. VAR_001857 Y Y ECO:0000269 PubMed:10408781 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010037 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G337C; In OI3. VAR_001857 Y Y ECO:0000269 PubMed:10408781 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010039 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G337S; In OI3. VAR_001858 Y Y ECO:0000269 PubMed:8829649 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010041 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G337S; In OI3. VAR_001858 Y Y ECO:0000269 PubMed:8829649 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010043 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G349C; In OI3. VAR_001860 Y Y ECO:0000269 PubMed:1990009 PubMed:8456807 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010049 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G349C; In OI3. VAR_001860 Y Y ECO:0000269 PubMed:1990009 PubMed:8456807 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010051 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G358S; In OI3. VAR_063352 Y Y ECO:0000269 PubMed:16705691 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010053 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G358S; In OI3. VAR_063352 Y Y ECO:0000269 PubMed:16705691 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010055 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G397E; In OI2. VAR_063353 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010057 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G397E; In OI2. VAR_063353 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010059 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G409V; In OI2. VAR_001861 Y Y ECO:0000269 PubMed:10627137 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010061 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G409V; In OI2. VAR_001861 Y Y ECO:0000269 PubMed:10627137 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010063 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G433E; In OI2. VAR_001862 Y Y ECO:0000269 PubMed:7906591 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010065 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G433E; In OI2. VAR_001862 Y Y ECO:0000269 PubMed:7906591 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010067 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G454C; In OI2. VAR_063354 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010069 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G454C; In OI2. VAR_063354 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010071 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G457L; In OI2; requires 2 nucleotide substitutions. VAR_063355 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010073 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G457L; In OI2; requires 2 nucleotide substitutions. VAR_063355 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010075 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G460S; In OI3. VAR_001863 Y Y ECO:0000269 PubMed:8829649 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010077 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G460S; In OI3. VAR_001863 Y Y ECO:0000269 PubMed:8829649 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010079 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G511D; In OI2. VAR_001864 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010085 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G511D; In OI2. VAR_001864 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010087 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G517R; In OI3. VAR_001865 Y Y ECO:0000269 PubMed:7520724 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010089 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G517R; In OI3. VAR_001865 Y Y ECO:0000269 PubMed:7520724 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010091 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G526E; In OI2. VAR_063357 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010093 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G526E; In OI2. VAR_063357 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010095 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G547R; In OI2. VAR_001866 Y Y ECO:0000269 PubMed:1284475 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010097 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G547R; In OI2. VAR_001866 Y Y ECO:0000269 PubMed:1284475 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010099 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G562C; In OI2. VAR_001868 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010101 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G562C; In OI2. VAR_001868 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010103 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G562V; In OI2. VAR_063358 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010105 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G562V; In OI2. VAR_063358 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010107 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G586R; In OI2. VAR_001869 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010109 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G586R; In OI2. VAR_001869 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010111 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G592S; In OI2. VAR_001870 Y Y ECO:0000269 PubMed:7959683 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010113 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G592S; In OI2. VAR_001870 Y Y ECO:0000269 PubMed:7959683 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010115 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G601S; In OI. VAR_063359 Y Y ECO:0000269 PubMed:16705691 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010117 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G601S; In OI. VAR_063359 Y Y ECO:0000269 PubMed:16705691 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010119 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G625D; In OI2. VAR_063360 Y Y ECO:0000269 PubMed:16879195 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010121 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G625D; In OI2. VAR_063360 Y Y ECO:0000269 PubMed:16879195 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010123 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G634V; In OI4. VAR_001871 Y Y ECO:0000269 PubMed:8401517 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010125 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G634V; In OI4. VAR_001871 Y Y ECO:0000269 PubMed:8401517 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010127 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G637D; In OI2. VAR_001872 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010129 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G637D; In OI2. VAR_001872 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010131 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G640S; In OI2. VAR_001873 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010133 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G640S; In OI2. VAR_001873 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010135 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G670D; In OI2. VAR_001874 Y Y ECO:0000269 PubMed:1385413 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010137 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G670D; In OI2. VAR_001874 Y Y ECO:0000269 PubMed:1385413 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010139 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G676D; In OI3. VAR_063361 Y Y ECO:0000269 PubMed:16705691 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010145 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G676D; In OI3. VAR_063361 Y Y ECO:0000269 PubMed:16705691 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010147 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G676V; In OI3 and OI4. VAR_001875 Y Y ECO:0000269 PubMed:2064612 PubMed:7881420 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010149 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G676V; In OI3 and OI4. VAR_001875 Y Y ECO:0000269 PubMed:2064612 PubMed:7881420 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010151 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G676V; In OI3 and OI4. VAR_001875 Y Y ECO:0000269 PubMed:2064612 PubMed:7881420 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010153 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G676V; In OI3 and OI4. VAR_001875 Y Y ECO:0000269 PubMed:2064612 PubMed:7881420 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010155 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant R708Q; In Marfan syndrome. VAR_001876 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010161 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant R708Q; In Marfan syndrome. VAR_001876 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010163 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G715D; In OI2. VAR_001877 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010165 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G715D; In OI2. VAR_001877 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010167 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G730C; In OI2. VAR_001878 Y Y ECO:0000269 PubMed:7891382 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010169 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G730C; In OI2. VAR_001878 Y Y ECO:0000269 PubMed:7891382 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010171 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G733C; In OI1. VAR_063363 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010173 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G733C; In OI1. VAR_063363 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010175 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G736C; In OI1; mild. VAR_001879 Y Y ECO:0000269 PubMed:1990009 PubMed:8456807 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010177 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G736C; In OI1; mild. VAR_001879 Y Y ECO:0000269 PubMed:1990009 PubMed:8456807 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010179 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G739R; In OI2. VAR_063364 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010181 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G739R; In OI2. VAR_063364 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010183 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G748V; In OI2. VAR_063365 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010185 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G748V; In OI2. VAR_063365 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010187 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G751S; In OI4. VAR_001881 Y Y ECO:0000269 PubMed:2052622 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010189 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G751S; In OI4. VAR_001881 Y Y ECO:0000269 PubMed:2052622 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010191 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G754C; In OI4. VAR_063366 Y Y ECO:0000269 PubMed:16879195 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010193 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G754C; In OI4. VAR_063366 Y Y ECO:0000269 PubMed:16879195 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010195 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G754R; In OI2. VAR_001882 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010197 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G754R; In OI2. VAR_001882 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010199 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G766V; In OI4. VAR_001883 Y Y ECO:0000269 PubMed:7693712 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010201 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G766V; In OI4. VAR_001883 Y Y ECO:0000269 PubMed:7693712 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010203 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G778S; In OI3. VAR_001884 Y Y ECO:0000269 PubMed:7720740 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010205 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G778S; In OI3. VAR_001884 Y Y ECO:0000269 PubMed:7720740 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010207 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G784R; In OI2. VAR_001885 Y Y ECO:0000269 PubMed:1874719 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010209 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G784R; In OI2. VAR_001885 Y Y ECO:0000269 PubMed:1874719 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010211 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G787C; In OI2. VAR_001886 Y Y ECO:0000269 PubMed:10627137 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010213 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G787C; In OI2. VAR_001886 Y Y ECO:0000269 PubMed:10627137 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010215 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G790D; In OI2. VAR_001887 Y Y ECO:0000269 PubMed:18996919 PubMed:8182080 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010217 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G790D; In OI2. VAR_001887 Y Y ECO:0000269 PubMed:18996919 PubMed:8182080 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010219 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G796S; In OI2. VAR_001888 Y Y ECO:0000269 PubMed:7693712 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010221 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G796S; In OI2. VAR_001888 Y Y ECO:0000269 PubMed:7693712 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010223 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant P798PP; In OI2. VAR_063367 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010225 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant P798PP; In OI2. VAR_063367 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010227 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G811GPPG; In OI4. VAR_063369 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010233 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G811GPPG; In OI4. VAR_063369 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010235 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G820S; In OI3. VAR_063370 Y Y ECO:0000269 PubMed:16705691 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010237 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G820S; In OI3. VAR_063370 Y Y ECO:0000269 PubMed:16705691 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010239 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G835C; In OI3. VAR_063371 Y Y ECO:0000269 PubMed:16879195 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010241 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G835C; In OI3. VAR_063371 Y Y ECO:0000269 PubMed:16879195 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010243 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G835S; In OI1. VAR_001890 Y Y ECO:0000269 PubMed:8829649 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010245 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G835S; In OI1. VAR_001890 Y Y ECO:0000269 PubMed:8829649 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010247 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G856R; In OI3. VAR_063372 Y Y ECO:0000269 PubMed:16705691 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010249 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G856R; In OI3. VAR_063372 Y Y ECO:0000269 PubMed:16705691 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010251 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G856V; In OI2. VAR_063373 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010253 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G856V; In OI2. VAR_063373 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010255 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G877C; In OI2. VAR_001891 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010257 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G877C; In OI2. VAR_001891 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010259 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G892D; In OI3 and OI4. VAR_001892 Y Y ECO:0000269 PubMed:8800927 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010261 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G892D; In OI3 and OI4. VAR_001892 Y Y ECO:0000269 PubMed:8800927 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010263 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G892D; In OI3 and OI4. VAR_001892 Y Y ECO:0000269 PubMed:8800927 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010265 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G892D; In OI3 and OI4. VAR_001892 Y Y ECO:0000269 PubMed:8800927 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010267 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G895D; In OI2. VAR_001893 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010269 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G895D; In OI2. VAR_001893 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010271 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G949S; In OI3; moderate. VAR_001894 Y Y ECO:0000269 PubMed:18996919 PubMed:8081394 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010273 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G949S; In OI3; moderate. VAR_001894 Y Y ECO:0000269 PubMed:18996919 PubMed:8081394 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010275 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G955D; In OI2. VAR_063374 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010277 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G955D; In OI2. VAR_063374 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010279 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G955S; In OI2. VAR_001895 Y Y ECO:0000269 PubMed:2777764 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010281 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G955S; In OI2. VAR_001895 Y Y ECO:0000269 PubMed:2777764 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010283 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G973V; In OI3. VAR_008120 Y Y ECO:0000269 PubMed:10408781 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010285 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G973V; In OI3. VAR_008120 Y Y ECO:0000269 PubMed:10408781 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010287 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G982D; In OI2. VAR_063375 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010289 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G982D; In OI2. VAR_063375 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010291 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant P989PVGP; In OI4. VAR_063376 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010293 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant P989PVGP; In OI4. VAR_063376 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010295 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G991V; In OI3. VAR_063377 Y Y ECO:0000269 PubMed:16879195 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010297 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G991V; In OI3. VAR_063377 Y Y ECO:0000269 PubMed:16879195 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010299 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G997D; In OI2. VAR_001896 Y Y ECO:0000269 PubMed:2914942 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010301 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G997D; In OI2. VAR_001896 Y Y ECO:0000269 PubMed:2914942 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010303 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1003D; In OI2. VAR_063378 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010305 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1003D; In OI2. VAR_063378 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010307 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1012S; In OI3 and OI4; moderate. VAR_001897 Y Y ECO:0000269 PubMed:16705691 PubMed:8094076 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010309 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1012S; In OI3 and OI4; moderate. VAR_001897 Y Y ECO:0000269 PubMed:16705691 PubMed:8094076 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010311 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1012S; In OI3 and OI4; moderate. VAR_001897 Y Y ECO:0000269 PubMed:16705691 PubMed:8094076 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010313 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1012S; In OI3 and OI4; moderate. VAR_001897 Y Y ECO:0000269 PubMed:16705691 PubMed:8094076 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010315 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1027E; In OI2. VAR_063379 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010317 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1027E; In OI2. VAR_063379 Y Y ECO:0000269 PubMed:18996919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010319 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1066D; In OI2. VAR_001899 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010325 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1066D; In OI2. VAR_001899 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010327 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1078C; In OI2. VAR_001900 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010329 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1078C; In OI2. VAR_001900 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010331 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1087D; In OI3. VAR_063381 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010333 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1087D; In OI3. VAR_063381 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010335 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1096A; In OI3. VAR_001901 Y Y ECO:0000269 PubMed:7749416 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010341 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1096A; In OI3. VAR_001901 Y Y ECO:0000269 PubMed:7749416 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010343 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant P1101L; VAR_001903 Y Y UniProtKB BP, DGA, ASD 4/3/2013 157 3300010345 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1102R; In OI4. VAR_001902 Y Y ECO:0000269 PubMed:2897363 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010346 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1102R; In OI4. VAR_001902 Y Y ECO:0000269 PubMed:2897363 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010348 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant C1195Y; In OI1. VAR_063383 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010352 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant C1195Y; In OI1. VAR_063383 Y Y ECO:0000269 PubMed:16786509 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 157 3300010354 Faith P12821 1636 ACE Homo sapiens 9606 Feature/mutagenesis site S1299A; Abolishes phosphorylation and decreases membrane retention. Y Y ECO:0000269 PubMed:12386153 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 172 3300010356 Faith P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant P1228L; No effect on activity; increases secretion; rate of solubilization is 2.5-fold higher than wild-type. VAR_023434 Y Y ECO:0000269 PubMed:11076943 PubMed:11551873 PubMed:14694062 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 172 3300010357 Faith P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P12821-2;Isoform Somatic-2;Soluble;Position 1137-1145:QFHEALCQA->HPFSQHTAA;In isoform Somatic-2. VSP_029932 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 172 3300010358 Faith P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P12821-2;Isoform Somatic-2;Soluble;Position 1146-1306:Missing;In isoform Somatic-2. VSP_029933 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, AAE, ASD 4/3/2013 172 3300010359 Faith P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P12821-4;Isoform 4;Position 1128-1168:Missing;In isoform 4. VSP_054837 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID,SEC_IDS BP, DGA, AAE, ASD 4/3/2013 172 3300010374 Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant Y127C; In WS4B. VAR_015238 Y Y ECO:0000269 PubMed:12189494 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 142 3300010375 Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant Y127C; In WS4B. VAR_015238 Y Y ECO:0000269 PubMed:12189494 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 142 3300010377 Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant C159F; In WS4B. VAR_002353 Y Y ECO:0000269 PubMed:8630503 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 142 3300010379 Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant C159F; In WS4B. VAR_002353 Y Y ECO:0000269 PubMed:8630503 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 142 3300010381 Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/splice variant P14138-2;Isoform Short;Position 181-196:SNSRTAEKTDKEEEGK->RQ;In isoform Short. VSP_001445 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 142 3300010383 Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/splice variant P14138-3;Isoform 3;Position 198-238:EVKDQQSKQALDLHHPKLMPGSGLALAPSTCPRCLFQEGAP->RGANRGLCQRRLKSRTNKASRL;In isoform 3. VSP_043139 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 142 3300010384 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/mutagenesis site DYVEKQAS288-295QSVEETAQ; No change in receptor activity and HCoV-229E infection. Y Y ECO:0000269 PubMed:11559807 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 159 3300010385 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/mutagenesis site DYVEKQAS288-295QSVEETAQ; No change in receptor activity and HCoV-229E infection. Y Y ECO:0000269 PubMed:11559807 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 159 3300010387 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/mutagenesis site DYVEKQAS288-295QSVNEQAQ; No change in receptor activity and HCoV-229E infection. Y Y ECO:0000269 PubMed:11559807 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 159 3300010389 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/mutagenesis site DYVEKQAS288-295QSVNEQAQ; No change in receptor activity and HCoV-229E infection. Y Y ECO:0000269 PubMed:11559807 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 159 3300010391 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/mutagenesis site DYVEKQAS288-295QSVNETAQ; Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity. Y Y ECO:0000269 PubMed:11559807 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 159 3300010393 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/mutagenesis site DYVEKQAS288-295QSVNETAQ; Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity. Y Y ECO:0000269 PubMed:11559807 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 159 3300010395 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/mutagenesis site EKQ291-293NKT; Complete loss of receptor activity and blocks HCoV-229E infection. No loss of enzymatic activity. Y Y UniProtKB BP, DGA, ASD 4/3/2013 159 3300010397 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/mutagenesis site E291N; No change of receptor activity and HCoV-229E infection. Y Y UniProtKB BP, DGA, ASD 4/3/2013 159 3300010401 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/mutagenesis site Q293T; No change of receptor activity and HCoV-229E infection. Y Y UniProtKB BP, DGA, ASD 4/3/2013 159 3300010405 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/mutagenesis site N818E; Very low receptor activity and HCoV-229E infection. Y Y ECO:0000269 PubMed:11559807 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 159 3300010409 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/mutagenesis site N818E; Very low receptor activity and HCoV-229E infection. Y Y ECO:0000269 PubMed:11559807 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 159 3300010411 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/sequence variant D242Y; VAR_006727 Y Y ECO:0000269 PubMed:9452074 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 159 3300010413 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/sequence variant L243P; VAR_006728 Y Y ECO:0000269 PubMed:9452074 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 159 3300010414 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T318R; In AH4. VAR_065667 Y Y ECO:0000269 PubMed:16046588 PubMed:20089618 PubMed:24987415 PubMed:26476331 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 148 3300010431 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T318R; In AH4. VAR_065667 Y Y ECO:0000269 PubMed:16046588 PubMed:20089618 PubMed:24987415 PubMed:26476331 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 148 3300010433 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant G379V; In AH4. VAR_065196 Y Y ECO:0000269 PubMed:20331679 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300010443 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant G379V; In AH4. VAR_065196 Y Y ECO:0000269 PubMed:20331679 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300010445 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R454C; In AH4. VAR_065197 Y Y ECO:0000269 PubMed:20947076 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300010447 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R454C; In AH4. VAR_065197 Y Y ECO:0000269 PubMed:20947076 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300010449 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant F494C; VAR_008687 Y Y ECO:0000269 PubMed:10599751 PubMed:2592361 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300010451 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant L8P; In HHT1. VAR_026774 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010486 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant V49F; In HHT1. VAR_026775 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010488 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant G52V; In HHT1. VAR_005193 Y Y ECO:0000269 PubMed:10545596 PubMed:9554745 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010490 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant C53R; In HHT1. VAR_005194 Y Y ECO:0000269 PubMed:10545596 PubMed:10625079 PubMed:9554745 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010492 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant L107R; In HHT1. VAR_026776 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010494 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant W149C; In HHT1. VAR_005195 Y Y ECO:0000269 PubMed:10545596 PubMed:9554745 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010496 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant A160D; In HHT1. VAR_009120 Y Y ECO:0000269 PubMed:9157574 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010498 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant L221P; In HHT1. VAR_009121 Y Y ECO:0000269 PubMed:10545596 PubMed:15712270 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010504 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant I263T; In HHT1. VAR_026780 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010508 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant L306P; In HHT1. VAR_005197 Y Y ECO:0000269 PubMed:9554745 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010512 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant C412S; In HHT1. VAR_026781 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010514 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant G413V; In HHT1. VAR_037140 Y Y ECO:0000269 PubMed:10982033 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010516 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant S615L; In HHT1. VAR_026783 Y Y ECO:0000269 PubMed:15712270 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010520 Faith P17813 2022 ENG Homo sapiens 9606 Feature/splice variant P17813-2;Isoform Short;Position 619-658:SPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA->EYPRPPQ;In isoform Short. VSP_004233 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 147 3300010522 Faith P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant N140NRL; In CMO-1 deficiency; the enzyme is inactive. VAR_018470 Y Y UniProtKB DGA, BP 4/3/2013 148 3300010523 Faith P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant E198D; In CMO-2 deficiency. VAR_001268 Y Y ECO:0000269 PubMed:9814506 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 148 3300010527 Faith P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant L461P; In CMO-1 deficiency; abolishes the 18-hydroxylase activity required for conversion of 11-deoxycorticosterone to aldosterone. VAR_018472 Y Y ECO:0000269 PubMed:9177280 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 148 3300010529 Faith P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant T498A; In CMO-2 deficiency. VAR_018473 Y Y ECO:0000269 PubMed:12788848 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 148 3300010531 Rose P24530 1910 EDNRB Homo sapiens 9606 Feature/mutagenesis site C402S; Abolishes palmitoylation; when associated with S-403 and S-405. Y Y ECO:0000269 PubMed:9261180 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010533 Rose P24530 1910 EDNRB Homo sapiens 9606 Feature/mutagenesis site C403S; Abolishes palmitoylation; when associated with S-402 and S-405. Y Y ECO:0000269 PubMed:9261180 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010534 Rose P24530 1910 EDNRB Homo sapiens 9606 Feature/mutagenesis site C405S; Abolishes palmitoylation; when associated with S-402 and S-403. Y Y ECO:0000269 PubMed:9261180 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010535 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant A183G; In WS4A. VAR_003470 Y Y ECO:0000269 PubMed:8634719 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010536 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant W276C; In HSCR2. VAR_003471 Y Y ECO:0000269 PubMed:8001158 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010538 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant F292L; In WS4A. VAR_015294 Y Y ECO:0000269 PubMed:12189494 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010540 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant M374I; In HSCR2. VAR_003474 Y Y ECO:0000269 PubMed:8630503 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010544 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant P383L; In HSCR2; familial. VAR_003475 Y Y ECO:0000269 PubMed:11471546 PubMed:8852660 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010546 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/splice variant P24530-2;Isoform B;Position 399-442:SCLCCWCQSFEEKQSLEEKQSCLKFKANDHGYDNFRSSNKYSSS->AGPHVGNKLVMLFSVNIECDGTVNQNPTMWPERKSNNN;In isoform B. VSP_001879 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010548 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/splice variant P24530-3;Isoform C;Delta-3;Position 1:M->MNKSTCLMAAETPSKRWRLHCLAFSQRFVRAGPACSSREACSSPRAGWNPAGFRLPGRWSPFVALHLVCQIREALKLRSGHRTPSGAGSSM;In isoform C. VSP_001878 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010549 Faith P25101 1909 EDNRA Homo sapiens 9606 Feature/sequence variant I136L; In a breast cancer sample; somatic mutation. VAR_035758 Y Y ECO:0000269 PubMed:16959974 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300010550 Faith P25101 1909 EDNRA Homo sapiens 9606 Feature/sequence variant I136L; In a breast cancer sample; somatic mutation. VAR_035758 Y Y ECO:0000269 PubMed:16959974 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300010552 Faith P25101 1909 EDNRA Homo sapiens 9606 Feature/splice variant P25101-2;Isoform 2;Delta-3;Position 141-161:LLAGRWPFDHNDFGVFLCKLF->VQSSCLLESCSGNWDSFGNCH;In isoform 2. VSP_011059 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300010554 Faith P25101 1909 EDNRA Homo sapiens 9606 Feature/splice variant P25101-2;Isoform 2;Delta-3;Position 162-427:Missing;In isoform 2. VSP_011060 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300010555 Faith P25101 1909 EDNRA Homo sapiens 9606 Feature/splice variant P25101-3;Isoform 3;Delta-4;Position 183-187:RYRAV->SSTKM;In isoform 3. VSP_011062 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300010556 Faith P25101 1909 EDNRA Homo sapiens 9606 Feature/splice variant P25101-3;Isoform 3;Delta-4;Position 188-427:Missing;In isoform 3. VSP_011063 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300010557 Faith P25101 1909 EDNRA Homo sapiens 9606 Feature/splice variant P25101-4;Isoform 4;Delta-3,4;Position 141-249:Missing;In isoform 4. VSP_011061 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300010558 Faith P25101 1909 EDNRA Homo sapiens 9606 Feature/splice variant P25101-5;Isoform 5;Position 1-225:Missing;In isoform 5. VSP_045578 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300010559 Faith P28906 947 CD34 Homo sapiens 9606 Feature/splice variant P28906-2;Isoform CD34-T;Position 325-328:GEDP->ELEP;In isoform CD34-T. VSP_004159 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 122 3300010560 Faith P28906 947 CD34 Homo sapiens 9606 Feature/splice variant P28906-2;Isoform CD34-T;Position 329-385:Missing;In isoform CD34-T. VSP_004160 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 122 3300010561 Mike P29474 4846 NOS3 Homo sapiens 9606 Feature/mutagenesis site S114A; Reduced nitrite (NO) production. Y Y ECO:0000269 PubMed:20213743 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300010562 Faith P29474 4846 NOS3 Homo sapiens 9606 Feature/splice variant P29474-2;Isoform eNOS13C;Position 584-625:ESFAAALMEMSGPYNSSPRPEQHKSYKIRFNSISCSDPLVSS->EGLTLWPRLECSSTITAHCSLNLLDSSNPPTSTSQVVGTTGACHDA;In isoform eNOS13C. VSP_042625 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300010568 Faith P29474 4846 NOS3 Homo sapiens 9606 Feature/splice variant P29474-2;Isoform eNOS13C;Position 626-1203:Missing;In isoform eNOS13C. VSP_042626 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300010569 Faith P29474 4846 NOS3 Homo sapiens 9606 Feature/splice variant P29474-3;Isoform eNOS13B;Position 585-614:SFAAALMEMSGPYNSSPRPEQHKSYKIRFN->RWGFAMLPRLVSNSWVQAIHLPRPPKVLRL;In isoform eNOS13B. VSP_045495 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300010570 Faith P29474 4846 NOS3 Homo sapiens 9606 Feature/splice variant P29474-3;Isoform eNOS13B;Position 615-1203:Missing;In isoform eNOS13B. VSP_045496 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 162 3300010571 Faith P29475 4842 NOS1 Homo sapiens 9606 Feature/splice variant P29475-2;Isoform 2;N-NOS-2;Position 509-613:Missing;In isoform 2. VSP_003574 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300010600 Faith P29475 4842 NOS1 Homo sapiens 9606 Feature/splice variant P29475-3;Isoform 3;TN-NOSB;Position 1-336:Missing;In isoform 3. VSP_003571 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300010601 Faith P29475 4842 NOS1 Homo sapiens 9606 Feature/splice variant P29475-4;Isoform 4;TEX2-insertion;Position 285-407:PPTSGKQSPTKNGSPSKCPRFLKVKNWETEVVLTDTLHLKSTLETGCTEYICMGSIMHPSQHARRPEDVRTKGQLFPLAKEFIDQYYSSIKRFGSKAHMERLEEVNKEIDTTSTYQLKDTELI->MRKLRITEGFGVQRGSHNHPPPQENSPPQRMAAPPSVHASSRSRTGRLRWFSLTPSTLRAHWKRDALSTSAWAPSCILLSMQGGLKTSAQKDSSSLSPKSLLINTIHQLKDLAPKPTWKGWKR;In isoform 4. VSP_003572 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300010602 Faith P29475 4842 NOS1 Homo sapiens 9606 Feature/splice variant P29475-4;Isoform 4;TEX2-insertion;Position 408-1434:Missing;In isoform 4. VSP_003573 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300010603 Faith P29475 4842 NOS1 Homo sapiens 9606 Feature/splice variant P29475-5;Isoform 5;nNOSmu;Position 844:K->KYPEPLRFFPRKGPPLPNGDTEVHGLAAARDSQHR;In isoform 5. VSP_044916 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300010604 Faith P30556 185 AGTR1 Homo sapiens 9606 Feature/sequence variant T282M; In RTD. VAR_035086 Y Y ECO:0000269 PubMed:16116425 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 135 3300010605 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant G15D; In HGCH-3. VAR_002632 Y Y UniProtKB BP, DGA, ASD 4/3/2013 145 3300010607 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/splice variant P30793-2;Isoform GCH-2;Position 210-213:HMCM->SAEP;In isoform GCH-2. VSP_001612 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 145 3300010680 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/splice variant P30793-2;Isoform GCH-2;Position 214-250:Missing;In isoform GCH-2. VSP_001613 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 145 3300010681 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/splice variant P30793-3;Isoform GCH-3;Position 210-250:Missing;In isoform GCH-3. VSP_001610 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 145 3300010682 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/splice variant P30793-4;Isoform GCH-4;Position 210-233:HMCMVMRGVQKMNSKTVTSTMLGV->KSNKYNKGLSPLLSSCHLFVAILK;In isoform GCH-4. VSP_001611 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 145 3300010683 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/splice variant P30793-4;Isoform GCH-4;Position 234-250:Missing;In isoform GCH-4. VSP_001614 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 145 3300010684 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A43V; In CPS1D. VAR_066171 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010685 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G58D; In CPS1D. VAR_066172 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010687 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S65F; In CPS1D. VAR_066173 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010689 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V71G; In CPS1D. VAR_066174 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010691 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G79E; In CPS1D. VAR_063560 Y Y ECO:0000269 PubMed:17310273 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010693 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant P87S; In CPS1D. VAR_066175 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010695 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y89D; In CPS1D. VAR_066176 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010697 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S123F; In CPS1D; modestly decreases enzyme activity. VAR_064062 Y Y ECO:0000269 PubMed:20578160 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010699 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D165G; In CPS1D. VAR_066177 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010701 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y212N; In CPS1D. VAR_063561 Y Y ECO:0000269 PubMed:17310273 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010703 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D224V; In CPS1D. VAR_066178 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010705 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R233C; In CPS1D. VAR_066179 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010707 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant H243P; In CPS1D. VAR_066180 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010709 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G258E; In CPS1D. VAR_066181 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010711 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G263E; In CPS1D. VAR_066182 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010713 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant K280N; In CPS1D. VAR_063562 Y Y ECO:0000269 PubMed:17310273 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010715 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G301E; In CPS1D. VAR_066104 Y Y ECO:0000269 PubMed:16737834 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010717 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A304V; In CPS1D; associated with T-986. VAR_066183 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010719 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G317E; In CPS1D. VAR_066184 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010721 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D358H; In CPS1D. VAR_066185 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010723 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant P382L; In CPS1D. VAR_066186 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010725 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G431R; In CPS1D. VAR_066188 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010733 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G432V; In CPS1D. VAR_066189 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010735 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A438T; In CPS1D. VAR_066190 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010739 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant K450E; In CPS1D. VAR_066191 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010741 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V457G; In CPS1D. VAR_017562 Y Y ECO:0000269 PubMed:12955727 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010743 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T471N; In CPS1D. VAR_064063 Y Y ECO:0000269 PubMed:20578160 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010745 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A498P; In CPS1D. VAR_066192 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010747 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V531E; In CPS1D. VAR_066193 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010749 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V531G; In CPS1D. VAR_066194 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010751 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R587C; In CPS1D. VAR_066195 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010755 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R587H; In CPS1D. VAR_063564 Y Y ECO:0000269 PubMed:17310273 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010757 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R587L; In CPS1D. VAR_066196 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010759 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A589T; In CPS1D. VAR_066142 Y Y ECO:0000269 PubMed:16737834 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010761 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G593R; In CPS1D. VAR_063565 Y Y ECO:0000269 PubMed:17310273 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010763 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S597L; In CPS1D. VAR_066197 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010765 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V622M; In CPS1D. VAR_066198 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010767 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G628D; In CPS1D. VAR_066199 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010769 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant I632R; In CPS1D. VAR_066200 Y Y ECO:0000269 PubMed:21120950 PubMed:24813853 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 155 3300010771 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R638P; In CPS1D. VAR_066201 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010773 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant C648Y; In CPS1D. VAR_066202 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010777 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant E651K; In CPS1D. VAR_063566 Y Y ECO:0000269 PubMed:17310273 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010779 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D654V; In CPS1D. VAR_066203 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010781 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N674I; In CPS1D. VAR_063567 Y Y ECO:0000269 PubMed:17310273 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010783 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N674K; In CPS1D. VAR_066204 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010785 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Q678P; In CPS1D; results in a poor enzyme expression and solubility; hampers correct enzyme folding. VAR_064064 Y Y ECO:0000269 PubMed:20578160 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010787 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N698S; In CPS1D. VAR_066205 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010789 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N716K; In CPS1D. VAR_066144 Y Y ECO:0000269 PubMed:16737834 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010791 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R718K; In CPS1D. VAR_066107 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010793 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R721Q; In CPS1D. VAR_066108 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010795 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A724P; In CPS1D. VAR_066109 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010797 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A726T; In CPS1D. VAR_066110 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010799 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D767V; In CPS1D. VAR_066111 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010801 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant P774L; In CPS1D; the enzyme is inactive. VAR_064065 Y Y ECO:0000269 PubMed:20578160 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010803 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R780H; In CPS1D. VAR_063568 Y Y ECO:0000269 PubMed:17310273 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010805 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant M792I; In CPS1D. VAR_066112 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010807 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R803C; In CPS1D. VAR_066145 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010809 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R803G; In CPS1D. VAR_066146 Y Y ECO:0000269 PubMed:21120950 PubMed:26440671 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 155 3300010811 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R803S; In CPS1D. VAR_066147 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010813 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant F805L; In CPS1D. VAR_066148 Y Y ECO:0000269 PubMed:16737834 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010815 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant F805S; In CPS1D. VAR_066149 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010817 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Q810R; In CPS1D. VAR_017563 Y Y ECO:0000269 PubMed:12955727 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010819 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R814W; In CPS1D. VAR_066150 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010821 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant C816R; In CPS1D. VAR_066151 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010823 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V978E; In CPS1D. VAR_066113 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010855 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G982D; In CPS1D. VAR_063570 Y Y ECO:0000269 PubMed:17310273 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010857 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G982S; In CPS1D. VAR_066162 Y Y ECO:0000269 PubMed:16737834 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010859 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G982V; In CPS1D. VAR_066114 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010861 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y984H; In CPS1D. VAR_066115 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010863 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant I986T; In CPS1D; associated with V-304. VAR_066116 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010865 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G987C; In CPS1D; may affect splicing. VAR_066117 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010867 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant F992S; In CPS1D. VAR_066118 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010869 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S998F; In CPS1D. VAR_066163 Y Y ECO:0000269 PubMed:16737834 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010871 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N1016S; In CPS1D. VAR_066119 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010873 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant P1017L; In CPS1D. VAR_066120 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010875 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T1022I; In CPS1D. VAR_066121 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010877 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant E1034G; In CPS1D. VAR_066122 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010879 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant H1045R; In CPS1D. VAR_066123 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010881 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant I1054R; In CPS1D. VAR_066164 Y Y ECO:0000269 PubMed:11388595 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010883 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Q1059R; In CPS1D. VAR_066124 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010885 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A1065E; In CPS1D. VAR_066125 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010887 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1089C; In CPS1D. VAR_066126 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010889 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1089L; In CPS1D. VAR_066165 Y Y ECO:0000269 PubMed:16737834 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010891 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Q1103R; In CPS1D. VAR_063571 Y Y ECO:0000269 PubMed:17310273 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010893 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V1141G; In CPS1D. VAR_063572 Y Y ECO:0000269 PubMed:17310273 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010895 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A1155E; In CPS1D. VAR_066127 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010897 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A1155V; In CPS1D. VAR_066128 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010899 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant H1195P; In CPS1D. VAR_063573 Y Y ECO:0000269 PubMed:17310273 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010901 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S1203L; In CPS1D. VAR_066129 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010903 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S1203P; In CPS1D. VAR_066166 Y Y ECO:0000269 PubMed:16737834 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010905 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D1205N; In CPS1D. VAR_066167 Y Y ECO:0000269 PubMed:16737834 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010907 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1228Q; In CPS1D. VAR_066130 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010911 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N1241K; In CPS1D. VAR_063575 Y Y ECO:0000269 PubMed:17310273 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010913 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant E1255D; In CPS1D. VAR_066131 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010915 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1262P; In CPS1D. VAR_066132 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010917 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1262Q; In CPS1D. VAR_066133 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010919 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D1274H; In CPS1D. VAR_066134 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010921 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant C1327R; In CPS1D. VAR_066135 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010923 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S1331P; In CPS1D. VAR_066168 Y Y ECO:0000269 PubMed:16737834 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010925 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G1333E; In CPS1D. VAR_066136 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010927 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1371L; In CPS1D. VAR_066137 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010929 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T1391M; In CPS1D. VAR_066138 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010934 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant L1398V; In CPS1D. VAR_066139 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010936 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant P1411L; In CPS1D; modestly decreases enzyme activity. VAR_064066 Y Y ECO:0000269 PubMed:16737834 PubMed:20578160 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010938 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant P1439L; In CPS1D. VAR_066140 Y Y ECO:0000269 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010940 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1453Q; In CPS1D; the enzyme is inactive. VAR_064067 Y Y ECO:0000269 PubMed:20578160 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010944 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1453W; In CPS1D; the enzyme is inactive. VAR_064068 Y Y ECO:0000269 PubMed:20578160 PubMed:21120950 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010946 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant P1462R; In CPS1D. VAR_066141 Y Y ECO:0000269 PubMed:21120950 PubMed:24813853 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 155 3300010948 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y1491H; In CPS1D; triggers a large decrease in the apparent affinity for N-acetyl-L-glutamate (NAG). VAR_064069 Y Y ECO:0000269 PubMed:20578160 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010950 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/splice variant P31327-2;Isoform 2;Position 1-451:Missing;In isoform 2. VSP_009332 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 155 3300010952 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site K8R; Substantial reduction of ubiquitination, phosphorylation at T-308 and S-473, AKT activation as well as IGF1-induced membrane recruitment. Decrease in ubiquitination and phosphorylation at T-308 as well as impaired association with the membrane; when associated with K-17. Y Y ECO:0000269 PubMed:19713527 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010953 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site K14A; Impairs interaction with PtdIns(3,4,5)P3 and PtdIns(3,4)P2. Y Y ECO:0000269 PubMed:12176338 PubMed:19713527 PubMed:21775285 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010954 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site K14Q; Substantial reduction of phosphorylation at T-308 and S-473, loss of AKT activation, and loss of binding to PIP3 as well as IGF1-induced membrane recruitment. Y Y ECO:0000269 PubMed:12176338 PubMed:19713527 PubMed:21775285 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010955 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site K14R; Substantial reduction of ubiquitination, phosphorylation at T-308 and S-473, AKT activation, loss of binding to PIP3 as well as IGF1-induced membrane recruitment. Y Y ECO:0000269 PubMed:12176338 PubMed:19713527 PubMed:21775285 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010956 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site E17K; No effect on membrane localization. Loss of membrane localization; when associated with Q-20. Y Y ECO:0000269 PubMed:21775285 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010957 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site K20Q; Substantial reduction of phosphorylation at T-308 and S-473, reduced AKT activation, and reduced binding to PIP3 as well as IGF1-induced membrane recruitment. Loss of membrane localization; when associated with K-17. Y Y ECO:0000269 PubMed:21775285 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010958 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site K20R; Slight increase of phosphorylation at T-308 and S-473. Y Y ECO:0000269 PubMed:21775285 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010959 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site R25{AC}; Impairs interaction with PtdIns(3,4,5)P3 and PtdIns(3,4)P2. Y Y ECO:0000269 PubMed:12176338 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010960 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site R86A; Impairs interaction with PtdIns(3,4,5)P3 and PtdIns(3,4)P2. Y Y ECO:0000269 PubMed:12176338 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010961 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site Y176F; Significant loss of interaction with TNK2. Loss of membrane localization. Significant reduction in phosphorylation on Ser-473. Y Y ECO:0000269 PubMed:20333297 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010962 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site T305A; Reduces O-GlcNAc levels; Reduces O-GlcNAc levels even more; when associated with A-312. Y Y ECO:0000269 PubMed:22629392 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010963 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site T305Y; Abolishes phosphorylation at Thr-308. Y Y ECO:0000269 PubMed:22629392 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010964 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site T308D; 5-fold activation and 18-fold activation; when associated with D-473. Y Y ECO:0000269 PubMed:12244301 PubMed:8978681 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010965 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site T312A; Reduces O-GlcNAc levels; Reduces O-GlcNAc levels even more; when associated with A-305. Y Y ECO:0000269 PubMed:22629392 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010966 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site T312Y; Abolishes phosphorylation at Thr-308. Y Y ECO:0000269 PubMed:22629392 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010967 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site S473D; 7-fold activation and 25-fold activation; when associated with D-308. Y Y ECO:0000269 PubMed:12244301 PubMed:8978681 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010968 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site Y474F; 55% inhibition of activation. Y Y ECO:0000269 PubMed:12149249 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 166 3300010969 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/sequence variant E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. Y Y PENTACON BP, DGA, ASD 4/21/2014 3 3300010970 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/sequence variant E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. Y Y PENTACON BP, DGA, ASD 4/21/2014 3 3300010974 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/sequence variant E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. Y Y PENTACON BP, DGA, ASD 4/21/2014 3 3300010976 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/sequence variant E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. Y Y PENTACON BP, DGA, ASD 4/21/2014 3 3300010978 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/sequence variant E17K; In PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592. Y Y PENTACON BP, DGA, ASD 4/21/2014 3 3300010980 Faith P35270 6697 SPR Homo sapiens 9606 Feature/mutagenesis site S213A; Abolishes phosphorylation by CaMK2. No effect on kinetic parameters. Y Y ECO:0000269 PubMed:11825621 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 137 3300010982 Faith P35270 6697 SPR Homo sapiens 9606 Feature/sequence variant R150G; In DRDSPRD. VAR_058007 Y Y ECO:0000269 PubMed:11443547 PubMed:17159114 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 137 3300010983 Faith P35270 6697 SPR Homo sapiens 9606 Feature/sequence variant P163L; In DRDSPRD. VAR_058008 Y Y ECO:0000269 PubMed:16650784 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 137 3300010985 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/mutagenesis site REL74-76DFQ; Affinity for BMP9 decreased by 200-fold. Y Y ECO:0000269 PubMed:22799562 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300010987 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant GA48-49EP; In HHT2. VAR_026784 Y Y UniProtKB BP, DGA, ASD 4/3/2013 149 3300010988 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant G48R; In HHT2. VAR_026785 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300010990 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant W50C; In HHT2; retained in the endoplasmic reticulum. VAR_006204 Y Y ECO:0000269 PubMed:10767348 PubMed:14684682 PubMed:9245985 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300010992 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant C51Y; In HHT2. VAR_006205 Y Y ECO:0000269 PubMed:10694922 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300010994 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R67Q; In HHT2; retained in the endoplasmic reticulum. VAR_006206 Y Y ECO:0000269 PubMed:14684682 PubMed:9245985 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300010996 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R67W; In HHT2. VAR_026786 Y Y ECO:0000269 PubMed:15712270 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300010998 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant C77W; In HHT2; retained in the endoplasmic reticulum. VAR_006207 Y Y ECO:0000269 PubMed:10694922 PubMed:14684682 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011000 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant N96D; In HHT2. VAR_006208 Y Y ECO:0000269 PubMed:10694922 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011002 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant D179A; In HHT2; mutant protein is capable of targeting the cell surface appropriately. VAR_026787 Y Y ECO:0000269 PubMed:14684682 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011004 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant E215K; In HHT2. VAR_026789 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011006 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant G223R; In HHT2. VAR_026790 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011008 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant K229R; In HHT2. VAR_026791 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011010 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant L285F; In HHT2. VAR_026794 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011018 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant S333I; In HHT2; retained in the endoplasmic reticulum. VAR_006210 Y Y ECO:0000269 PubMed:10767348 PubMed:14684682 PubMed:9245985 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011024 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant L337P; In HHT2. VAR_026797 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011026 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant A347P; In HHT2. VAR_026799 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011028 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R374Q; In HHT2; retained in the endoplasmic reticulum. VAR_026800 Y Y ECO:0000269 PubMed:14684682 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011030 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant M376V; In HHT2. VAR_026801 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011032 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant P378L; In HHT2; retained in the endoplasmic reticulum. VAR_026802 Y Y ECO:0000269 PubMed:14684682 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011034 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant D397G; In HHT2. VAR_026804 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011038 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant E407D; In HHT2. VAR_026807 Y Y ECO:0000269 PubMed:10767348 PubMed:15712270 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011040 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R411P; In HHT2. VAR_026808 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011042 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant P424T; In HHT2. VAR_006214 Y Y ECO:0000269 PubMed:9245985 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011046 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant F425L; In HHT2. VAR_026810 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011048 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant F425V; In HHT2. VAR_026811 Y Y ECO:0000269 PubMed:15712270 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011050 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R479L; In HHT2. VAR_026813 Y Y ECO:0000269 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011054 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R484W; In HHT2. VAR_026815 Y Y ECO:0000269 PubMed:11484689 PubMed:15024723 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011058 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant K487T; In HHT2; mutant protein is capable of targeting the cell surface appropriately. VAR_026816 Y Y ECO:0000269 PubMed:14684682 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 149 3300011060 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant V318M; In diabetes. VAR_010727 Y Y ECO:0000269 PubMed:10622252 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 184 3300011062 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant F388L; In FPLD3. VAR_022700 Y Y ECO:0000269 PubMed:12453919 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 184 3300011064 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant R425C; In FPLD3. VAR_022701 Y Y ECO:0000269 PubMed:11788685 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 184 3300011066 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant P495L; In diabetes. VAR_010728 Y Y ECO:0000269 PubMed:10622252 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 184 3300011068 Faith P37231 5468 PPARG Homo sapiens 9606 Feature/splice variant P37231-2;Isoform 1;PPARgamma1(wt);Position 1-28:Missing;In isoform 1 and isoform 3. VSP_003645 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 184 3300011070 Faith P37231 5468 PPARG Homo sapiens 9606 Feature/splice variant P37231-3;Isoform 3;PPARgamma1(tr);Position 1-28:Missing;In isoform 1 and isoform 3. VSP_003645 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 184 3300011071 Faith P37231 5468 PPARG Homo sapiens 9606 Feature/splice variant P37231-3;Isoform 3;PPARgamma1(tr);Position 207-213:AIRFGRM->EELQKDS;In isoform 3. VSP_043906 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 184 3300011072 Faith P37231 5468 PPARG Homo sapiens 9606 Feature/splice variant P37231-3;Isoform 3;PPARgamma1(tr);Position 214-504:Missing;In isoform 3. VSP_043907 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 184 3300011073 Rose P42892 1889 ECE1 Homo sapiens 9606 Feature/mutagenesis site C428S; Abolishes dimerization. Y Y ECO:0000269 PubMed:18992253 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300011075 Faith P42892 1889 ECE1 Homo sapiens 9606 Feature/splice variant P42892-2;Isoform A;Position 1-44:MRGVWPPPVSALLSALGMSTYKRATLDEEDLVDSLSEGDAYPNG->MPLQGLGLQRNPFLQGKRGPGLTSSPPLLPPS;In isoform A. VSP_005502 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300011076 Faith P42892 1889 ECE1 Homo sapiens 9606 Feature/splice variant P42892-3;Isoform C;Position 1-17:MRGVWPPPVSALLSALG->M;In isoform C. VSP_005504 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300011077 Faith P42892 1889 ECE1 Homo sapiens 9606 Feature/splice variant P42892-4;Isoform D;Position 1-17:MRGVWPPPVSALLSALG->MEALRESVLHLALQ;In isoform D. VSP_005503 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 136 3300011078 Mike P48506 2729 GCLC Homo sapiens 9606 Feature/sequence variant R127C; In HAGGSD. VAR_021110 Y Y ECO:0000269 PubMed:12663448 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 121 3300011079 Mike P48506 2729 GCLC Homo sapiens 9606 Feature/sequence variant P158L; In HAGGSD. VAR_015403 Y Y ECO:0000269 PubMed:10733484 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 121 3300011081 Mike P48506 2729 GCLC Homo sapiens 9606 Feature/sequence variant H370L; In HAGGSD. VAR_013514 Y Y ECO:0000269 PubMed:10515893 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 121 3300011083 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant G358R; In CMT2M. VAR_068425 Y Y ECO:0000269 PubMed:18560793 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011091 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E368K; In CNM1. VAR_031962 Y Y ECO:0000269 PubMed:16227997 PubMed:20227276 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011093 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E368K; In CNM1. VAR_031962 Y Y ECO:0000269 PubMed:16227997 PubMed:20227276 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011095 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E368Q; In CNM1. VAR_068365 Y Y ECO:0000269 PubMed:17825552 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011097 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E368Q; In CNM1. VAR_068365 Y Y ECO:0000269 PubMed:17825552 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011099 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R369Q; In CNM1. VAR_031963 Y Y ECO:0000269 PubMed:16227997 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011101 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R369Q; In CNM1. VAR_031963 Y Y ECO:0000269 PubMed:16227997 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011103 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R369W; In CNM1; reduced association with the centrosome. VAR_031964 Y Y ECO:0000269 PubMed:16227997 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011105 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R369W; In CNM1; reduced association with the centrosome. VAR_031964 Y Y ECO:0000269 PubMed:16227997 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011107 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R465W; In CNM1; reduced association with the centrosome; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. VAR_031965 Y Y ECO:0000269 PubMed:16227997 PubMed:19623537 PubMed:20227276 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011109 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R465W; In CNM1; reduced association with the centrosome; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. VAR_031965 Y Y ECO:0000269 PubMed:16227997 PubMed:19623537 PubMed:20227276 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011111 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R522C; In CNM1. VAR_068366 Y Y ECO:0000269 PubMed:22396310 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011113 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R522C; In CNM1. VAR_068366 Y Y ECO:0000269 PubMed:22396310 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011115 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R522H; In CNM1. VAR_068367 Y Y ECO:0000269 PubMed:20227276 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011117 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R522H; In CNM1. VAR_068367 Y Y ECO:0000269 PubMed:20227276 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011119 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R523G; In CNM1. VAR_068368 Y Y ECO:0000269 PubMed:22396310 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011121 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R523G; In CNM1. VAR_068368 Y Y ECO:0000269 PubMed:22396310 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011123 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant G537C; In CMT2M. VAR_062574 Y Y ECO:0000269 PubMed:17636067 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011125 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E560K; In CNM1. VAR_068369 Y Y ECO:0000269 PubMed:19122038 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011129 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E560K; In CNM1. VAR_068369 Y Y ECO:0000269 PubMed:19122038 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011131 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant K562E; In CMTDIB; with neutropenia; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. VAR_031967 Y Y ECO:0000269 PubMed:15731758 PubMed:19623537 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011133 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant L570H; In CMT2M. VAR_062575 Y Y ECO:0000269 PubMed:17636067 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011135 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant A618D; In CNM1. VAR_068370 Y Y ECO:0000269 PubMed:19932619 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011137 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant A618D; In CNM1. VAR_068370 Y Y ECO:0000269 PubMed:19932619 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011139 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant A618T; In CNM1; severe. VAR_039041 Y Y ECO:0000269 PubMed:17932957 PubMed:20227276 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011141 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant A618T; In CNM1; severe. VAR_039041 Y Y ECO:0000269 PubMed:17932957 PubMed:20227276 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011143 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant S619L; In CNM1; severe. VAR_039042 Y Y ECO:0000269 PubMed:17932957 PubMed:20227276 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011145 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant S619L; In CNM1; severe. VAR_039042 Y Y ECO:0000269 PubMed:17932957 PubMed:20227276 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011147 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant S619W; In CNM1; severe. VAR_039043 Y Y ECO:0000269 PubMed:17932957 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011149 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant S619W; In CNM1; severe. VAR_039043 Y Y ECO:0000269 PubMed:17932957 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011151 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant L621P; In CNM1; centronuclear myopathy with cataracts. VAR_068371 Y Y ECO:0000269 PubMed:19932620 UniProtKB UPDATE ver_2 Changes in: EVID with cataracts BP 4/3/2013 137 3300011153 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant L621P; In CNM1; centronuclear myopathy with cataracts. VAR_068371 Y Y ECO:0000269 PubMed:19932620 UniProtKB UPDATE ver_2 Changes in: EVID with cataracts BP 4/3/2013 137 3300011155 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant P627H; In CNM1. VAR_068372 Y Y ECO:0000269 PubMed:20227276 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011161 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant P627H; In CNM1. VAR_068372 Y Y ECO:0000269 PubMed:20227276 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011163 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant P627R; In CNM1. VAR_068373 Y Y ECO:0000269 PubMed:22396310 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011165 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant P627R; In CNM1. VAR_068373 Y Y ECO:0000269 PubMed:22396310 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011167 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E650K; In CNM1; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. VAR_062576 Y Y ECO:0000269 PubMed:19623537 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011169 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E650K; In CNM1; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. VAR_062576 Y Y ECO:0000269 PubMed:19623537 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011171 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/splice variant P50570-2;Isoform 2;Position 516-519:Missing;In isoform 2 and isoform 3. VSP_001325 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011173 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/splice variant P50570-3;Isoform 3;Position 516-519:Missing;In isoform 2 and isoform 3. VSP_001325 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 137 3300011175 Faith Q03135 857 CAV1 Homo sapiens 9606 Feature/sequence variant P132L; In breast cancer; seems to form misfolded oligomers that are retained within the Golgi complex and are not targeted to caveolae or the plasma membrane. VAR_015103 Y Y ECO:0000269 PubMed:12368209 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 151 3300011177 Faith Q03135 857 CAV1 Homo sapiens 9606 Feature/sequence variant P132L; In breast cancer; seems to form misfolded oligomers that are retained within the Golgi complex and are not targeted to caveolae or the plasma membrane. VAR_015103 Y Y ECO:0000269 PubMed:12368209 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 151 3300011179 Faith Q03135 857 CAV1 Homo sapiens 9606 Feature/splice variant Q03135-2;Isoform Beta;Position 1-31:Missing;In isoform Beta. VSP_018692 Y Y UniProtKB TBD ver_2 DGA, BP 4/3/2013 151 3300011181 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/mutagenesis site S19A; Decrease in activity; abolishes phosphorylation by PKG. Y Y ECO:0000269 PubMed:10531334 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011182 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant R16C; In HPABH4A; severe decrease in activity; diminishes phosphorylation by PKG. VAR_006816 Y Y ECO:0000269 PubMed:10531334 PubMed:7493990 PubMed:8178819 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011183 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant R25G; In HPABH4A; severe form. VAR_006817 Y Y ECO:0000269 PubMed:9450907 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011184 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant R25Q; In HPABH4A; abolishes activity; no effect on phosphorylation by PKG. VAR_006818 Y Y ECO:0000269 PubMed:10531334 PubMed:7493990 PubMed:8178819 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011186 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant L26F; In HPABH4A. VAR_058265 Y Y ECO:0000269 PubMed:11388593 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011188 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant E35G; In HPABH4A. VAR_006819 Y Y UniProtKB BP, ASD 4/3/2013 138 3300011190 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant N36K; In HPABH4A. VAR_006820 Y Y UniProtKB BP, ASD 4/3/2013 138 3300011192 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant N52S; In HPABH4A; severe form; common in Chinese population. VAR_006821 Y Y ECO:0000269 PubMed:8707300 PubMed:9450907 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011196 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant V56M; In HPABH4A; mild form. VAR_006822 Y Y ECO:0000269 PubMed:9450907 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011198 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant T67M; In HPABH4A. VAR_006824 Y Y ECO:0000269 PubMed:11388593 PubMed:9222757 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011202 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant V70D; In HPABH4A. VAR_006825 Y Y ECO:0000269 PubMed:9450907 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011204 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant P87L; In HPABH4A. VAR_006826 Y Y ECO:0000269 PubMed:11388593 PubMed:7493990 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011206 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant V97M; In HPABH4A. VAR_058266 Y Y ECO:0000269 PubMed:10585341 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011212 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant Y99C; In HPABH4A. VAR_058267 Y Y ECO:0000269 PubMed:10874306 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011214 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant F100V; In HPABH4A. VAR_006829 Y Y UniProtKB BP, ASD 4/3/2013 138 3300011216 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant T106M; In HPABH4A. VAR_006830 Y Y ECO:0000269 PubMed:9450907 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011218 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant I114V; In HPABH4A. VAR_006831 Y Y ECO:0000269 PubMed:7698774 PubMed:9159737 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011220 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant K129E; In HPABH4A. VAR_006832 Y Y ECO:0000269 PubMed:9222757 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011226 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant D136G; In HPABH4A. VAR_058269 Y Y ECO:0000269 PubMed:11388593 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011228 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant D136V; In HPABH4A. VAR_006833 Y Y ECO:0000269 PubMed:11388593 PubMed:9222757 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 138 3300011230 Mike Q07075 2028 ENPEP Homo sapiens 9606 Feature/sequence variant R887T; In a breast cancer sample; somatic mutation. VAR_036047 Y Y ECO:0000269 PubMed:16959974 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 135 3300011232 Faith Q13237 5593 PRKG2 Homo sapiens 9606 Feature/sequence variant W716R; In a colorectal adenocarcinoma sample; somatic mutation. VAR_040609 Y Y ECO:0000269 PubMed:17344846 UniProtKB UPDATE ver_2 Changes in: EVID In a colorectal adenocarcinoma sample BP 4/3/2013 118 3300011236 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C60Y; In PPH1. VAR_013670 Y Y ECO:0000269 PubMed:11015450 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011237 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C60Y; In PPH1. VAR_013670 Y Y ECO:0000269 PubMed:11015450 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011239 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant Q82H; In PPH1. VAR_033109 Y Y ECO:0000269 PubMed:12358323 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011241 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant Q82H; In PPH1. VAR_033109 Y Y ECO:0000269 PubMed:12358323 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011243 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C117Y; In PPH1. VAR_013671 Y Y ECO:0000269 PubMed:11015450 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011245 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C117Y; In PPH1. VAR_013671 Y Y ECO:0000269 PubMed:11015450 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011247 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C118W; In PPH1. VAR_013672 Y Y ECO:0000269 PubMed:10973254 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011249 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C118W; In PPH1. VAR_013672 Y Y ECO:0000269 PubMed:10973254 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011251 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C123R; In PPH1. VAR_013673 Y Y ECO:0000269 PubMed:11115378 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011253 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C123R; In PPH1. VAR_013673 Y Y ECO:0000269 PubMed:11115378 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011255 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C123S; In PPH1. VAR_013674 Y Y ECO:0000269 PubMed:11115378 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011257 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C123S; In PPH1. VAR_013674 Y Y ECO:0000269 PubMed:11115378 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011259 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant G182D; In PPH1. VAR_033110 Y Y ECO:0000269 PubMed:12358323 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011261 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant G182D; In PPH1. VAR_033110 Y Y ECO:0000269 PubMed:12358323 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011263 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant E224D; VAR_013675 Y Y ECO:0000269 PubMed:11115378 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011265 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C347Y; In PPH1. VAR_013676 Y Y ECO:0000269 PubMed:10973254 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011266 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C347Y; In PPH1. VAR_013676 Y Y ECO:0000269 PubMed:10973254 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011268 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C420R; In PPH1. VAR_013677 Y Y ECO:0000269 PubMed:11115378 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011270 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C420R; In PPH1. VAR_013677 Y Y ECO:0000269 PubMed:11115378 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011272 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C483R; In PPH1; sporadic. VAR_013678 Y Y ECO:0000269 PubMed:11015450 PubMed:12358323 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011274 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C483R; In PPH1; sporadic. VAR_013678 Y Y ECO:0000269 PubMed:11015450 PubMed:12358323 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011276 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant D485G; In PPH1; complete loss of function. VAR_013679 Y Y ECO:0000269 PubMed:10973254 PubMed:11115378 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011278 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant D485G; In PPH1; complete loss of function. VAR_013679 Y Y ECO:0000269 PubMed:10973254 PubMed:11115378 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011280 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant R491Q; In PPH1; sporadic. VAR_013680 Y Y ECO:0000269 PubMed:10903931 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011282 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant R491Q; In PPH1; sporadic. VAR_013680 Y Y ECO:0000269 PubMed:10903931 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011284 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant R491W; In PPH1. VAR_013681 Y Y ECO:0000269 PubMed:10903931 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011286 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant R491W; In PPH1. VAR_013681 Y Y ECO:0000269 PubMed:10903931 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011288 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant K512T; In PPH1. VAR_013682 Y Y ECO:0000269 PubMed:11115378 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011290 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant K512T; In PPH1. VAR_013682 Y Y ECO:0000269 PubMed:11115378 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 4/3/2013 148 3300011292 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant N519K; In PPH1. VAR_013683 Y Y UniProtKB BP, DGA, ASD 4/3/2013 148 3300011294 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant N519K; In PPH1. VAR_013683 Y Y UniProtKB BP, DGA, ASD 4/3/2013 148 3300011296 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/mutagenesis site T20A; No change in sialylated isoforms. Y Y ECO:0000269 PubMed:19855092 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300011302 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/mutagenesis site T21A; Some loss of sialylated isoforms. Y Y ECO:0000269 PubMed:19855092 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300011303 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/mutagenesis site T22A; Abolishes sialylated isoforms. Y Y ECO:0000269 PubMed:19855092 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300011304 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/mutagenesis site K33R; No effect on formation of HMW multimers. Y Y ECO:0000269 PubMed:16497731 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300011305 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/mutagenesis site C36S; Impaired formation of MMW and HMW multimers. Y Y ECO:0000269 PubMed:12878598 PubMed:16497731 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300011306 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/mutagenesis site K65R; Impaired formation of HMW multimers; when associated with R-68. Y Y ECO:0000269 PubMed:16497731 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300011307 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/mutagenesis site K68R; Impaired formation of HMW multimers; when associated with R-65. Y Y ECO:0000269 PubMed:16497731 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300011308 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/mutagenesis site K77R; Impaired formation of HMW multimers; when associated with R-101. Y Y ECO:0000269 PubMed:16497731 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300011309 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/mutagenesis site K101R; Impaired formation of HMW multimers; when associated with R-77. Y Y ECO:0000269 PubMed:16497731 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300011310 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/sequence variant G84R; Does not form high molecular weight multimers. VAR_013273 Y Y ECO:0000269 PubMed:11812766 PubMed:12354786 PubMed:12878598 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300011311 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/sequence variant R112C; In ADPND; does not assemble into trimers resulting in impaired secretion from the cell. VAR_013274 Y Y ECO:0000269 PubMed:10918532 PubMed:12086969 PubMed:12878598 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300011313 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/sequence variant V117M; VAR_013275 Y Y ECO:0000269 PubMed:11812766 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 136 3300011315 Faith Q16568 9607 CARTPT Homo sapiens 9606 Feature/sequence variant L61F; Cosegregates with obesity phenotype in a large family. VAR_012199 Y Y ECO:0000269 PubMed:11522684 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 113 3300011323 Faith Q16568 9607 CARTPT Homo sapiens 9606 Feature/sequence variant L61F; Cosegregates with obesity phenotype in a large family. VAR_012199 Y Y ECO:0000269 PubMed:11522684 UniProtKB UPDATE ver_2 Changes in: EVID BP, ASD 4/3/2013 113 3300011325 Rose Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Feature/splice variant Q8IVI9-2;Isoform 2;Position 38-65:Missing;In isoform 2. VSP_025885 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA 4/3/2013 101 3300011328 Faith Q92824 5125 PCSK5 Homo sapiens 9606 Feature/splice variant Q92824-2;Isoform PC6A;Short;Position 876-913:GEYVDEHGHCQTCEASCAKCQGPTQEDCTTCPMTRIFD->ATEESWAEGGFCMLVKKNNLCQRKVLQQLCCKTCTFQG;In isoform PC6A. VSP_042017 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 134 3300011331 Faith Q92824 5125 PCSK5 Homo sapiens 9606 Feature/splice variant Q92824-2;Isoform PC6A;Short;Position 914-1860:Missing;In isoform PC6A. VSP_042018 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 134 3300011332 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site QAK24-26KAE; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011333 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site QAK24-26KAE; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011335 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site K31D; Abolishes interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011337 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site K31D; Abolishes interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011339 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site E37A; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011341 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site E37A; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011343 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site D38A; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011345 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site D38A; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011347 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site Y41A; Strongly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011349 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site Y41A; Strongly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011351 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site K68D; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011353 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site K68D; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011355 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site MYP82-84NFS; Inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011357 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site MYP82-84NFS; Inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011359 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site E110P; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011361 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site E110P; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011363 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site PD135-136SM; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011365 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site PD135-136SM; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011367 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site E160R; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011369 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site E160R; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011371 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site R192D; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011373 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site R192D; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011375 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site R219D; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011377 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site R219D; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011379 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site H239Q; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011381 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site H239Q; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011383 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site K309D; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011385 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site K309D; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011387 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site E312A; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011389 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site E312A; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011391 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site T324A; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011393 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site T324A; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011395 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site NVQ338-340DDR; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011397 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site NVQ338-340DDR; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011399 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site D350A; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011401 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site D350A; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011403 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site K353{HAD}; Abolishes interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011405 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site K353{HAD}; Abolishes interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011407 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site D355A; Strongly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011409 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site D355A; Strongly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011411 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site R357A; Strongly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011413 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site R357A; Strongly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011415 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site L359{KA}; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011417 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site L359{KA}; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011419 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site M383A; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011421 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site M383A; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011423 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site P389A; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011425 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site P389A; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011427 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site R393A; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011429 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site R393A; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011431 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site SPD425-427PSN; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011433 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site SPD425-427PSN; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011435 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site KGE465-467QDK; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011437 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site KGE465-467QDK; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011439 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site R559S; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011441 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site R559S; Slightly inhibits interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011443 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site F603T; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011445 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/mutagenesis site F603T; No effect on interaction with SARS-CoV spike glycoprotein. Y Y ECO:0000269 PubMed:15791205 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID BP, DGA, ASD 4/3/2013 114 3300011447 Faith Q9UBR2 1522 CTSZ Homo sapiens 9606 Feature/sequence variant P36S; VAR_010254 Y Y ECO:0000269 PubMed:9738465 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 124 3300011452 Faith Q9UBR2 1522 CTSZ Homo sapiens 9606 Feature/sequence variant A129R; Requires 2 nucleotide substitutions. VAR_010255 Y Y ECO:0000269 PubMed:9738465 UniProtKB UPDATE ver_2 Changes in: EVID BP 4/3/2013 124 3300011453 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site D26A; Impairs cell membrane targeting; when associated with A-30. Y Y ECO:0000269 PubMed:21518754 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011454 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site M30A; Impairs cell membrane targeting; when associated with A-26. Y Y ECO:0000269 PubMed:21518754 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011455 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R134A; Does not affect autocatalytic cleavage. Y Y ECO:0000269 PubMed:21288900 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011456 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R164A; Affects autocatalytic cleavage and production of Atrial natriuretic peptide-converting enzyme, 160 kDa soluble fragment. Y Y ECO:0000269 PubMed:21288900 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011457 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R180A; Does not affect autocatalytic cleavage. Y Y ECO:0000269 PubMed:21288900 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011458 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R213A; Does not affect autocatalytic cleavage. Y Y ECO:0000269 PubMed:21288900 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011459 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R239A; Does not affect autocatalytic cleavage. Y Y ECO:0000269 PubMed:21288900 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011460 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R244A; Does not affect autocatalytic cleavage. Y Y ECO:0000269 PubMed:21288900 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011461 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R427A; Affects autocatalytic cleavage and production of Atrial natriuretic peptide-converting enzyme, 100 kDa soluble fragment. Y Y ECO:0000269 PubMed:21288900 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011462 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R801A; Loss of activity towards NPPA. Y Y ECO:0000269 PubMed:14559895 PubMed:21288900 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011463 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site S985A; Loss of activity towards NPPA. Y Y ECO:0000269 PubMed:10880574 PubMed:14559895 PubMed:21288900 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011464 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/sequence variant K317E; In PEE5. VAR_067795 Y Y ECO:0000269 PubMed:22437503 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011465 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/sequence variant K317E; In PEE5. VAR_067795 Y Y ECO:0000269 PubMed:22437503 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011467 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/sequence variant S472G; In PEE5. VAR_067797 Y Y ECO:0000269 PubMed:22437503 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011469 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/sequence variant S472G; In PEE5. VAR_067797 Y Y ECO:0000269 PubMed:22437503 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011471 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/splice variant Q9Y5Q5-2;Isoform 2;hE1a;Position 1-29:Missing;In isoform 2. VSP_043952 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID DGA, BP 4/3/2013 123 3300011473 Mike P29474 4846 NOS3 Homo sapiens 9606 Comment/polymorphism Variation in NOS3 seem to be associated with susceptibility to coronary spasm. Y Y UniProtKB TBD ver_2 BP, DGA, ASD 4/3/2013 162 3300012045 curatus P30411 624 BDKRB2 Homo sapiens 9606 Feature/splice variant P30411-2;Isoform Short;Position 1-27:Missing;In isoform Short. VSP_001865 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID BP, DGA, ASD 9/3/2014 152 3300033355 curatus P30411 624 BDKRB2 Homo sapiens 9606 Feature/sequence variant R14C; In dbSNP:rs1046248. VAR_003457 rs1046248 Y Y ECO:0000269 PubMed:7779090 submission: UniProtKB BP, DGA, ASD 9/3/2014 152 3300033356 curatus P30411 624 BDKRB2 Homo sapiens 9606 Feature/sequence variant G354E; In dbSNP:rs2227279. VAR_012284 rs2227279 Y Y ECO:0000269 submission: UniProtKB BP, DGA, ASD 9/3/2014 152 3300033357 curatus P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant A1119T; Found in a patient with mild osteogenesis imperfecta associated with increased bone mineral density; results in defective type I procollagen processing; incorporation of the immature procollagen into the matrix leads to increased bone matrix mineralization and altered collagen fibril structure. VAR_066386 Y Y ECO:0000269 PubMed:21344539 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078047 curatus P31749 207 AKT1 Homo sapiens 9606 Feature/sequence variant T435P; In CWS6. VAR_069792 Y Y ECO:0000269 PubMed:23246288 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 202 3300078056 curatus P31749 207 AKT1 Homo sapiens 9606 Feature/sequence variant R25C; In CWS6. VAR_069791 Y Y ECO:0000269 PubMed:23246288 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 202 3300078057 curatus Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Feature/splice variant Q8IVI9-3;Isoform 3;NOSTRINbeta;Position 1-78:Missing;In isoform 3. VSP_025884 Y Y ECO:0000303 UniProtKB N ver_2 BP, DGA 3/16/2016 130 3300078061 curatus Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/sequence variant R221S; In dbSNP:rs138773406. VAR_013277 rs138773406 Y Y ECO:0000269 PubMed:11812766 PubMed:12086969 UniProtKB N ver_2 BP, DGA 3/16/2016 165 3300078066 curatus Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/sequence variant H241P; In dbSNP:rs141205818. VAR_013278 rs141205818 Y Y ECO:0000269 PubMed:11812766 PubMed:12086969 UniProtKB N ver_2 BP, DGA 3/16/2016 165 3300078067 curatus Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/sequence variant I164T; Associated with low plasma adiponectin concentration and diabetes mellitus type 2; does not assemble into trimers resulting in impaired secretion from the cell; dbSNP:rs185847354. VAR_013276 rs185847354 Y Y ECO:0000269 PubMed:11812766 PubMed:12086969 PubMed:12878598 UniProtKB N ver_2 BP, DGA 3/16/2016 165 3300078068 curatus Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/sequence variant G90S; Does not form high molecular weight multimers; dbSNP:rs62625753. VAR_027395 rs62625753 Y Y ECO:0000269 PubMed:12354786 PubMed:12878598 UniProtKB N ver_2 BP, DGA 3/16/2016 165 3300078069 curatus P62158 801 CALM1 Homo sapiens 9606 Feature/sequence variant D130G; In LQT14; reduction in Ca(2+) affinity. VAR_073278 Y Y ECO:0000269 PubMed:23388215 UniProtKB N ver_2 BP, ASD 5/11/2016 162 3300078072 curatus P62158 801 CALM1 Homo sapiens 9606 Feature/sequence variant D134H; In LQT15; reduction in Ca(2+) affinity. VAR_073280 Y Y ECO:0000269 PubMed:24917665 UniProtKB N ver_2 BP, ASD 5/11/2016 162 3300078073 curatus P62158 801 CALM1 Homo sapiens 9606 Feature/sequence variant N98S; In CPVT4 and LQT15; the mutant has significantly reduced Ca(2+) affinity compared to wild-type; calmodulin-RYR2 interaction is defective at low intracellular Ca(2+) concentrations and restored at moderate to high Ca(2+) concentrations. VAR_069223 Y Y ECO:0000269 PubMed:23040497 PubMed:24917665 UniProtKB N ver_2 BP, ASD 5/11/2016 162 3300078074 curatus P62158 801 CALM1 Homo sapiens 9606 Feature/sequence variant N98I; In LQT15; reduction in Ca(2+) affinity. VAR_073277 Y Y ECO:0000269 PubMed:24917665 UniProtKB N ver_2 BP, ASD 5/11/2016 162 3300078075 curatus P62158 801 CALM1 Homo sapiens 9606 Feature/sequence variant N54I; In CPVT4; the mutant has significantly reduced Ca(2+) affinity compared to wild-type. VAR_069222 Y Y ECO:0000269 PubMed:23040497 UniProtKB N ver_2 BP, ASD 5/11/2016 162 3300078076 curatus P62158 801 CALM1 Homo sapiens 9606 Feature/sequence variant D96V; In LQT15; reduction in Ca(2+) affinity. VAR_073276 Y Y ECO:0000269 PubMed:23388215 UniProtKB N ver_2 BP, ASD 5/11/2016 162 3300078077 curatus P62158 801 CALM1 Homo sapiens 9606 Feature/sequence variant Q136P; In LQT15; reduction in Ca(2+) affinity. VAR_073281 Y Y ECO:0000269 PubMed:24917665 UniProtKB N ver_2 BP, ASD 5/11/2016 162 3300078078 curatus P62158 801 CALM1 Homo sapiens 9606 Feature/sequence variant F142L; In LQT14; reduction in Ca(2+) affinity. VAR_073282 Y Y ECO:0000269 PubMed:23388215 UniProtKB N ver_2 BP, ASD 5/11/2016 162 3300078079 curatus P62158 801 CALM1 Homo sapiens 9606 Feature/sequence variant D132E; In LQT15; reduction in Ca(2+) affinity. VAR_073279 Y Y ECO:0000269 PubMed:24917665 UniProtKB N ver_2 BP, ASD 5/11/2016 162 3300078080 curatus P62158 801 CALM1 Homo sapiens 9606 Feature/sequence variant F90L; In LQT14. VAR_073275 Y Y ECO:0000269 PubMed:24076290 UniProtKB N ver_2 BP, ASD 5/11/2016 162 3300078081 curatus P05305 1906 EDN1 Homo sapiens 9606 Feature/sequence variant P77H; In ARCND3. VAR_071153 Y Y ECO:0000269 PubMed:24268655 UniProtKB N ver_2 BP, DGA, AAE, ASD 5/11/2016 178 3300078088 curatus P05305 1906 EDN1 Homo sapiens 9606 Feature/sequence variant V64D; In QME. VAR_071152 Y Y ECO:0000269 PubMed:24268655 UniProtKB N ver_2 BP, DGA, AAE, ASD 5/11/2016 178 3300078089 curatus P05305 1906 EDN1 Homo sapiens 9606 Feature/sequence variant K198N; Polymorphism associated with HDL cholesterol levels is some populations and in a sex-specific manner; dbSNP:rs5370. VAR_014188 rs5370 Y Y ECO:0000269 PubMed:10334806 PubMed:10391210 PubMed:15489334 PubMed:17357073 PubMed:18288492 submission: UniProtKB N ver_2 BP, DGA, AAE, ASD 5/11/2016 178 3300078090 curatus P05305 1906 EDN1 Homo sapiens 9606 Feature/sequence variant K91E; In ARCND3. VAR_071154 Y Y ECO:0000269 PubMed:24268655 UniProtKB N ver_2 BP, DGA, AAE, ASD 5/11/2016 178 3300078091 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site V366A; No effect on agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078126 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site V136A; Slightly decreases agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078127 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site F217A; Slightly decreases agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078128 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site E363A; No effect on agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078129 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site T140A; Slightly decreases agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078130 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site L209A; No effect on agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078131 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site V348A; No effect on agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078132 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site V208A; No effect on agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078133 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site L362A; No effect on agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078134 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site S139A; Slightly decreases agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078135 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site L347A; No effect on agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078136 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site Y370A; Slightly decreases agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078137 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site M218A; No effect on agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078138 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site K211A; Impairs protein folding and stability. Strongly reduced cell surface expression. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078139 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site N344A; Slightly decreases agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078140 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site D135A; Abolishes agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078141 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site L132A; No effect on agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078142 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site W337A; Slightly decreases agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078143 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site F340A; Slightly decreases agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078144 curatus P41595 3357 HTR2B Homo sapiens 9606 Feature/mutagenesis site A225S; No effect on agonist binding. Y Y ECO:0000269 PubMed:23519210 UniProtKB N ver_2 BP, ASD 5/11/2016 157 3300078145 curatus Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant S863N; In PPH1; abnormal subcellular localization; significant increase in apoptosis of endothelial cells; significant decrease in proliferation of endothelial cells; significant decrease in nitric oxide synthesis by endothelial cells; significant increase in endothelin 1 synthesis by endothelial cells. VAR_073042 Y Y ECO:0000269 PubMed:25187962 UniProtKB N ver_2 BP, DGA, ASD 4/13/2016 182 3300078170 curatus Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant R899P; In PPH1; leads to constitutive activation of the MAPK14 pathway; dbSNP:rs137852752. VAR_033111 rs137852752 Y Y ECO:0000269 PubMed:15965979 UniProtKB N ver_2 BP, DGA, ASD 4/13/2016 182 3300078171 curatus Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant Y67C; In PPH1; significant decrease in nitric oxide synthesis by endothelial cells. VAR_073041 Y Y ECO:0000269 PubMed:25187962 UniProtKB N ver_2 BP, DGA, ASD 4/13/2016 182 3300078172 curatus Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/sequence variant N638S; In dbSNP:rs183135788. VAR_023083 rs183135788 Y Y ECO:0000269 PubMed:15937940 UniProtKB N ver_2 BP, DGA, ASD 4/13/2016 147 3300078173 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/splice variant P31327-3;Isoform 3;Position 1:M->MPQIIKM;In isoform 3. VSP_046685 Y Y ECO:0000303 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078174 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant E1194D; In CPS1D. VAR_075410 Y Y ECO:0000269 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078175 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G911V; In CPS1D; significant decrease in protein yield and enzyme activity. VAR_066153 Y Y ECO:0000269 PubMed:16737834 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078176 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G530V; Found in a patient with VACTERL syndrome and postsurgical PHN; variant of unknown pathological significance. VAR_070211 Y Y ECO:0000269 PubMed:21767969 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078177 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R850C; In CPS1D; moderate decrease in protein yield and partial loss of enzyme activity. VAR_063569 Y Y ECO:0000269 PubMed:17310273 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078178 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant I1254F; In CPS1D; unknown pathological significance. VAR_075411 Y Y ECO:0000269 PubMed:26440671 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078179 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant L843S; In CPS1D; associated with E-875; significant decrease in protein yield and partial loss of enzyme activity. VAR_017564 Y Y ECO:0000269 PubMed:12655559 PubMed:15164414 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078180 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T871P; In CPS1D; significant decrease in protein yield and enzyme activity. VAR_075407 Y Y ECO:0000269 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078181 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S123Y; In CPS1D; unknown pathological significance. VAR_075404 Y Y ECO:0000269 PubMed:26440671 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078182 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T1167R; In CPS1D. VAR_075808 Y Y ECO:0000269 PubMed:22173106 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078183 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant L390R; In CPS1D; significant loss of protein stability. VAR_066106 Y Y ECO:0000269 PubMed:16737834 PubMed:23649895 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078184 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant L1381S; In CPS1D; significant loss of protein stability. VAR_075413 Y Y ECO:0000269 PubMed:23649895 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078185 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G661R; In CPS1D. VAR_075807 Y Y ECO:0000269 PubMed:22173106 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078186 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant K875E; In CPS1D; associated with S-843; significant decrease in protein yield and thermal stability; dbSNP:rs147062907. VAR_017565 rs147062907 Y Y ECO:0000269 PubMed:12655559 PubMed:15164414 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078187 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T344A; Polymorphism; no negative effect on protein stability, enzyme activity and thermal stability; dbSNP:rs1047883. VAR_006834 rs1047883 Y Y ECO:0000269 PubMed:12853138 PubMed:23649895 PubMed:9711878 submission: UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078188 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G964D; In CPS1D; significant decrease in protein yield and enzyme activity. VAR_075409 Y Y ECO:0000269 PubMed:22173106 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078189 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant L341S; In CPS1D. VAR_075806 Y Y ECO:0000269 PubMed:22173106 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078190 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R932T; In CPS1D; significant decrease in protein yield and partial loss of enzyme activity. VAR_066157 Y Y ECO:0000269 PubMed:21120950 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078191 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R850H; In CPS1D; partial loss of enzyme activity. VAR_030675 Y Y ECO:0000269 PubMed:15617192 PubMed:21120950 PubMed:24813853 PubMed:26440671 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078192 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T1443A; In CPS1D; almost complete loss of enzyme activity; approximately 10-fold decrease in the apparent Vmax for bicarbonate, ammonia and ATP; decreased affinity for NAG. VAR_066170 Y Y ECO:0000269 PubMed:16737834 PubMed:23649895 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078193 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y389C; In CPS1D; around 40% decrease in enzyme activity; significant loss of thermal stability. VAR_066105 Y Y ECO:0000269 PubMed:16737834 PubMed:23649895 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078194 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant I1215V; In CPS1D; dbSNP:rs141373204. VAR_063574 rs141373204 Y Y ECO:0000269 PubMed:17310273 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078195 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G401R; In CPS1D; unknown pathological significance; associated with N-937 in a patient. VAR_066187 Y Y ECO:0000269 PubMed:21120950 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078196 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant L958P; In CPS1D; significant decrease in protein yield and enzyme activity. VAR_066159 Y Y ECO:0000269 PubMed:16737834 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078197 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N355D; In CPS1D; around 80% decrease in enzyme activity; significant reduction in thermal stability; approximately 4-fold decrease in the apparent Vmax for ATP, bicarbonate and ammonia. VAR_075406 Y Y ECO:0000269 PubMed:23649895 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078198 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G911E; In CPS1D; significant decrease in protein yield and enzyme activity. VAR_066152 Y Y ECO:0000269 PubMed:21120950 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078199 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y959C; In CPS1D; significant decrease in protein yield and thermal stability; partial loss of enzyme activity. VAR_066160 Y Y ECO:0000269 PubMed:21120950 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078200 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D914G; In CPS1D; significant decrease in protein yield and enzyme activity. VAR_066155 Y Y ECO:0000269 PubMed:21120950 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078201 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A1378T; In CPS1D; significant reduction in thermal stability. VAR_066169 Y Y ECO:0000269 PubMed:16737834 PubMed:23649895 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078202 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T1406N; Polymorphism; associated with susceptibility to neonatal pulmonary hypertension; also highly associated with hepatocellular carcinoma progression; dbSNP:rs1047891. VAR_017569 rs1047891 Y Y ECO:0000269 PubMed:11407344 PubMed:12853138 PubMed:12955727 PubMed:1840546 PubMed:20520828 PubMed:21767969 PubMed:24237036 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078203 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D914H; In CPS1D; significant decrease in protein yield and enzyme activity. VAR_066156 Y Y ECO:0000269 PubMed:21120950 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078204 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant 1363-1366:Missing; In CPS1D; unknown pathological significance. VAR_075412 Y Y ECO:0000269 PubMed:26440671 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078205 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T544M; In CPS1D; almost complete loss of enzyme activity; approximately 60-fold increase in the apparent Km for bicarbonate and approximately 4-fold respective decrease and increase in the apparent Vmax and Km for ammonia. VAR_006835 Y Y ECO:0000269 PubMed:21120950 PubMed:23649895 PubMed:9711878 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078206 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S913L; In CPS1D; significant decrease in protein yield and partial loss of enzyme activity. VAR_066154 Y Y ECO:0000269 PubMed:21120950 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078207 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A949T; In CPS1D; partial loss of enzyme activity and significant decrease in thermal stability. VAR_066158 Y Y ECO:0000269 PubMed:21120950 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078208 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y962C; In CPS1D; significant decrease in protein yield and partial loss of enzyme activity. VAR_066161 Y Y ECO:0000269 PubMed:21120950 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078209 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A438P; In CPS1D; almost complete loss of enzyme activity. VAR_063563 Y Y ECO:0000269 PubMed:17310273 PubMed:23649895 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078210 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G1376S; Polymorphism; no functional consequences; no negative effect on protein stability, enzyme activity and thermal stability; dbSNP:rs140578009. VAR_017568 rs140578009 Y Y ECO:0000269 PubMed:12853138 PubMed:20578160 PubMed:23649895 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078211 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S918P; In CPS1D; significant decrease in protein yield and enzyme activity. VAR_030676 Y Y ECO:0000269 PubMed:15617192 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078212 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A640S; In CPS1D; dbSNP:rs142693704. VAR_066143 rs142693704 Y Y ECO:0000269 PubMed:16737834 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078213 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant I937N; In CPS1D; associated with R-401; significant decrease in protein yield and enzyme activity. VAR_075408 Y Y ECO:0000269 PubMed:24813853 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078214 curatus P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R174W; In CPS1D; unknown pathological significance. VAR_075405 Y Y ECO:0000269 PubMed:26440671 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078215 curatus P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant V386A; In CMO-2 deficiency; small but consistent reduction in the production of 18-hydroxycorticosterone; dbSNP:rs61757294. VAR_001269 rs61757294 Y Y ECO:0000269 PubMed:10391209 PubMed:10391210 PubMed:1346492 PubMed:1594605 PubMed:9814506 UniProtKB N ver_2 DGA, BP 2/17/2016 176 3300078216 curatus P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant T185I; In CMO-2 deficiency; dbSNP:rs121912978. VAR_018471 rs121912978 Y Y ECO:0000269 PubMed:12788848 PubMed:9625333 UniProtKB N ver_2 DGA, BP 2/17/2016 176 3300078217 curatus P50570 1785 DNM2 Homo sapiens 9606 Feature/splice variant P50570-4;Isoform 4;Position 407-444:LAFEAIVKKQVVKLKEPCLKCVDLVIQELINTVRQCTS->MAFEAIVKKQIVKLKEPSLKCVDLVVSELATVIKKCAE;In isoform 3 and isoform 4. VSP_044280 Y Y ECO:0000303 UniProtKB N ver_2 BP 5/11/2016 173 3300078219 curatus P50570 1785 DNM2 Homo sapiens 9606 Feature/splice variant P50570-3;Isoform 3;Position 407-444:LAFEAIVKKQVVKLKEPCLKCVDLVIQELINTVRQCTS->MAFEAIVKKQIVKLKEPSLKCVDLVVSELATVIKKCAE;In isoform 3 and isoform 4. VSP_044280 Y Y ECO:0000303 UniProtKB N ver_2 BP 5/11/2016 173 3300078220 curatus P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant F379V; In LCCS5; hypomorphic mutation impacting on endocytosis. VAR_070163 Y Y ECO:0000269 PubMed:23092955 UniProtKB N ver_2 BP 5/11/2016 173 3300078221 curatus P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant 555-557:Missing; In CMTDIB; may affect binding to vesicles and membranes in favor of binding to microtubules; may affect receptor-mediated endocytosis. VAR_031966 Y Y ECO:0000269 PubMed:15731758 UniProtKB N ver_2 BP 5/11/2016 173 3300078222 curatus P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant 562:Missing; In CMTDIB. VAR_070164 Y Y ECO:0000269 PubMed:15731758 UniProtKB N ver_2 BP 5/11/2016 173 3300078223 curatus P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant 625:Missing; In CNM1; severe; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. VAR_039044 Y Y ECO:0000269 PubMed:17932957 PubMed:19623537 UniProtKB N ver_2 BP 5/11/2016 173 3300078224 curatus P25101 1909 EDNRA Homo sapiens 9606 Feature/sequence variant Y129F; In MFDA. VAR_073788 Y Y ECO:0000269 PubMed:25772936 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 169 3300078227 curatus P25101 1909 EDNRA Homo sapiens 9606 Feature/sequence variant E303K; In MFDA. VAR_073789 Y Y ECO:0000269 PubMed:25772936 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 169 3300078228 curatus P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant R319W; In HSCR2; sporadic; dbSNP:rs200363611. VAR_003473 rs200363611 Y Y ECO:0000269 PubMed:11471546 PubMed:8852660 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 189 3300078229 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant G267D; In AH4. VAR_074511 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078236 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R448C; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074531 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078237 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T401A; In AH4; decreases steroid 11-beta-hydroxylase activity. VAR_074526 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078238 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant G444D; In AH4. VAR_074530 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078239 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant S150L; In AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. VAR_074504 Y Y ECO:0000269 PubMed:24536089 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078240 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R332G; In AH4; high reduction of steroid 11-beta-monooxygenase activity. VAR_075554 Y Y ECO:0000269 PubMed:26476331 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078241 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant 254-259:Missing; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074510 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078242 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant E310K; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074514 Y Y ECO:0000269 PubMed:24022297 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078243 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant A165D; In AH4; almost abolishes steroid 11-beta-hydroxylase activity. VAR_074508 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078244 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant V129M; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074500 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078245 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R366C; In AH4; decreases steroid 11-beta-hydroxylase activity. VAR_074521 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078246 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R427H; In AH4. VAR_074527 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078247 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R143W; In AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. VAR_074503 Y Y ECO:0000269 PubMed:24022297 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078248 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R448H; In AH4; abolishes steroid 11-beta-hydroxylase activity; dbSNP:rs28934586. VAR_001265 rs28934586 Y Y ECO:0000269 PubMed:16046588 PubMed:20089618 PubMed:2022736 PubMed:24987415 PubMed:26476331 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078249 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant P135S; In AH4; highly decreases steroid 11-beta-hydroxylase activity. VAR_074501 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078250 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T318M; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_001262 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078251 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T318P; In AH4. VAR_074516 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078252 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant F321V; In AH4. VAR_074517 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078253 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant P94L; In AH4; almost abolishes steroid 11-beta-hydroxylase activity. VAR_065666 Y Y ECO:0000269 PubMed:16046588 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078254 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R374Q; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_001264 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078255 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant F139L; In AH4; decreases steroid 11-beta-hydroxylase activity. VAR_074502 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078256 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant P42L; In AH4; classic; highly decreases steroid 11-beta-hydroxylase activity. VAR_074493 Y Y ECO:0000269 PubMed:26053152 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078257 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant L158P; In AH4; highly decreases steroid 11-beta-hydroxylase activity. VAR_074505 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078258 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R43Q; In AH4; decreases steroid 11-beta-hydroxylase activity; dbSNP:rs4534. VAR_014146 rs4534 Y Y ECO:0000269 PubMed:10391209 PubMed:10391210 PubMed:20089618 PubMed:2401360 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078259 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant F79I; In AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. VAR_074494 Y Y ECO:0000269 PubMed:23940125 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078260 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant L83S; In AH4; highly decreases steroid 11-beta-hydroxylase activity. VAR_074495 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078261 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant P42S; In AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. VAR_001260 Y Y ECO:0000269 PubMed:20089618 PubMed:26053152 PubMed:9302260 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078262 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R384G; In AH4. VAR_074524 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078263 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant P159L; In AH4; decreases steroid 11-beta-hydroxylase activity. VAR_074506 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078264 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant L489S; In AH4. VAR_074534 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078265 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant N133H; In AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. VAR_001261 Y Y ECO:0000269 PubMed:20089618 PubMed:9302260 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078266 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant 438:Missing; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074528 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078267 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant W116C; In AH4; almost abolishes steroid 11-beta-hydroxylase activity. VAR_074497 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078268 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant G314R; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074515 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078269 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant H125R; In AH4; slightly decreases steroid 11-beta-hydroxylase activity. VAR_074499 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078270 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant A306V; In AH4; non-classic; almost abolishes steroid 11-beta-hydroxylase activity. VAR_074513 Y Y ECO:0000269 PubMed:20089618 PubMed:24022297 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078271 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T319M; In AH4; non-classic; decreases steroid 11-beta-hydroxylase activity. VAR_001263 Y Y ECO:0000269 PubMed:20089618 PubMed:9302260 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078272 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant 161:Missing; In AH4. VAR_074507 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078273 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant W116G; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074498 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078274 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant E371G; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074523 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078275 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R141Q; In AH4; unknown pathological significance. VAR_075553 Y Y ECO:0000269 PubMed:24987415 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078276 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R384Q; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074525 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078277 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant L299P; In AH4; non-classic; almost abolishes steroid 11-beta-hydroxylase activity. VAR_074512 Y Y ECO:0000269 PubMed:20089618 PubMed:24022297 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078278 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R332Q; In AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. VAR_074519 Y Y ECO:0000269 PubMed:24022297 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078279 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R453Q; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074532 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078280 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant A368D; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074522 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078281 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant M88I; In AH4; slightly decreases steroid 11-beta-hydroxylase activity. VAR_074496 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078282 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T196A; In AH4; decreases steroid 11-beta-hydroxylase activity. VAR_074509 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078283 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant A331V; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074518 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078284 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant L463LL; In AH4; classic; abolishes steroid 11-beta-hydroxylase activity. VAR_074533 Y Y ECO:0000269 PubMed:24536089 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078285 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R341S; In AH4. VAR_074520 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078286 curatus P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant V441G; In AH4; abolishes steroid 11-beta-hydroxylase activity. VAR_074529 Y Y ECO:0000269 PubMed:20089618 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 178 3300078287 curatus P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 461-466:Missing; In OI2. VAR_063356 Y Y ECO:0000269 PubMed:18996919 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078312 curatus P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 806-811:Missing; In OI2. VAR_063368 Y Y ECO:0000269 PubMed:18996919 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078313 curatus P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant R1067H; VAR_069633 Y Y ECO:0000269 PubMed:23656646 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078314 curatus P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 345:Missing; In OI3. VAR_001859 Y Y ECO:0000269 PubMed:8444468 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078315 curatus P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 181-198:Missing; In OI4. VAR_030117 Y Y ECO:0000269 PubMed:1642148 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078316 curatus P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 705-707:Missing; In OI2. VAR_063362 Y Y ECO:0000269 PubMed:18996919 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078317 curatus P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 1094-1096:Missing; In OI4. VAR_063382 Y Y ECO:0000269 PubMed:16705691 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078318 curatus P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 676-855:Missing; In OI2. VAR_030120 Y Y ECO:0000269 PubMed:1339453 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078319 curatus P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 76-93:Missing; In EDS7B. VAR_001851 Y Y ECO:0000269 PubMed:1577745 PubMed:2394758 PubMed:3680255 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078320 curatus P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 1058-1062:Missing; In OI2. VAR_063380 Y Y ECO:0000269 PubMed:18996919 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 191 3300078321 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant L313V; In HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. VAR_075240 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078322 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant C69R; In HHT2. VAR_070314 Y Y ECO:0000269 PubMed:16525724 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078323 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant E379D; In HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. VAR_075241 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078324 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant I245V; In HHT2; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately; affects splicing by inducing the creation of a new donor splice site and the loss of the 3' end of exon 6. VAR_075239 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078325 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant A482V; In HHT2; dbSNP:rs139142865. VAR_026814 rs139142865 Y Y ECO:0000269 PubMed:15024723 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078326 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant 232:Missing; In HHT2; mutant protein is capable of targeting the cell surface appropriately. VAR_006209 Y Y ECO:0000269 PubMed:10767348 PubMed:14684682 PubMed:8640225 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078327 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R411W; In HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. VAR_026809 Y Y ECO:0000269 PubMed:11484689 PubMed:15024723 PubMed:15712270 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078328 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant E111D; Rare polymorphism; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately. VAR_075237 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078329 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant H314Y; In HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. VAR_026796 Y Y ECO:0000269 PubMed:15024723 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078330 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant G416S; In HHT2. VAR_070338 Y Y ECO:0000269 PubMed:16525724 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078331 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant C46G; In HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. VAR_075233 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078332 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant V441M; In HHT2; retained in the endoplasmic reticulum. VAR_075244 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078333 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant I417F; Rare polymorphism; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately. VAR_075243 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078334 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant W217G; In HHT2. VAR_070319 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078335 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant S38C; VAR_070310 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078336 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant C443Y; In HHT2; retained in the endoplasmic reticulum. VAR_075245 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078337 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant L403P; In HHT2. VAR_070337 Y Y ECO:0000269 PubMed:16525724 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078338 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant P433R; In HHT2. VAR_070341 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078339 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant N96S; In HHT2. VAR_070315 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078340 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant Q237K; In HHT2. VAR_070323 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078341 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant E379K; In HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. VAR_026803 Y Y ECO:0000269 PubMed:15024723 PubMed:15712270 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078342 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant A347D; In HHT2. VAR_070334 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078343 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant T52A; In HHT2. VAR_070312 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078344 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant C41Y; In HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. VAR_075232 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078345 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant A400T; Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. VAR_070336 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078346 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant T265P; In HHT2. VAR_070325 Y Y ECO:0000269 PubMed:16525724 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078347 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant P378S; In HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. VAR_070335 Y Y ECO:0000269 PubMed:20414677 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078348 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant P449S; In HHT2. VAR_070342 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078349 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant K486E; Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. VAR_070344 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078350 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant W50G; In HHT2. VAR_070311 Y Y ECO:0000269 PubMed:16525724 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078351 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R479P; In HHT2. VAR_070343 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078352 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant L342P; VAR_070332 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078353 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant L138P; VAR_070316 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078354 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant N335H; In HHT2. VAR_070331 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078355 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant L294R; In HHT2. VAR_070329 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078356 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant C344R; In HHT2. VAR_070333 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078357 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant P30S; Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance; dbSNP:rs149664056. VAR_070308 rs149664056 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078358 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant 233:Missing; In HHT2. VAR_026792 Y Y ECO:0000269 PubMed:15024723 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078359 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant 425:Missing; In HHT2. VAR_026812 Y Y ECO:0000269 PubMed:15712270 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078360 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant C34Y; In HHT2. VAR_070309 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078361 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant V226E; In HHT2. VAR_070321 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078362 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant H280R; In HHT2. VAR_070327 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078363 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant D176Y; In HHT2. VAR_070317 Y Y ECO:0000269 PubMed:16525724 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078364 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant A306P; In HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. VAR_026795 Y Y ECO:0000269 PubMed:15024723 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078365 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant T197I; In HHT2. VAR_070318 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078366 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant Y426C; In HHT2. VAR_070340 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078367 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant H66P; In HHT2. VAR_070313 Y Y ECO:0000269 PubMed:16525724 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078368 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant H66Y; In HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. VAR_075235 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078369 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant C41G; In HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. VAR_075231 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078370 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant I260L; In HHT2. VAR_070324 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078371 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant P424R; In HHT2. VAR_070339 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078372 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant 254:Missing; In HHT2; retained in the endoplasmic reticulum. VAR_026793 Y Y ECO:0000269 PubMed:11484689 PubMed:14684682 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078373 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant S233L; In HHT2. VAR_070322 Y Y ECO:0000269 PubMed:16525724 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078374 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant T277K; Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. VAR_070326 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078375 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant C77F; In HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. VAR_075236 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078376 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant V404G; In HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. VAR_075242 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078377 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant L289P; In HHT2. VAR_070328 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078378 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant G219D; In HHT2. VAR_070320 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078379 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant G211D; In HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum; dbSNP:rs28936687. VAR_026788 rs28936687 Y Y ECO:0000269 PubMed:14684682 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078380 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant G211S; In HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. VAR_075238 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078381 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant H328Q; In HHT2. VAR_070330 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078382 curatus P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R47P; In HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. VAR_075234 Y Y ECO:0000269 PubMed:26176610 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 181 3300078383 curatus Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant 57:Missing; In HPABH4A. VAR_006823 Y Y ECO:0000269 PubMed:10585341 PubMed:7493990 PubMed:9222757 UniProtKB N ver_2 BP, ASD 5/11/2016 168 3300078384 curatus Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant N47D; In HPABH4A; transient phenotype due to partial PTS deficiency; the patient is compound heterozygote for D-47 and G-116; total loss of activity. VAR_008040 Y Y ECO:0000269 PubMed:10220141 UniProtKB N ver_2 BP, ASD 5/11/2016 168 3300078385 curatus Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant P87S; In HPABH4A; severe form; common in Chinese population; dbSNP:rs104894276. VAR_006827 rs104894276 Y Y ECO:0000269 PubMed:8707300 PubMed:9450907 UniProtKB N ver_2 BP, ASD 5/11/2016 168 3300078386 curatus Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant V124L; In HPABH4A; dbSNP:rs150726932. VAR_058268 rs150726932 Y Y ECO:0000269 PubMed:11388593 UniProtKB N ver_2 BP, ASD 5/11/2016 168 3300078387 curatus Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant D96N; In HPABH4A; severe form; dbSNP:rs104894280. VAR_006828 rs104894280 Y Y ECO:0000269 PubMed:9450907 UniProtKB N ver_2 BP, ASD 5/11/2016 168 3300078388 curatus Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant D116G; In HPABH4A; transient phenotype due to partial PTS deficiency; the patient is compound heterozygote for D-47 and G-116; mild decrease of activity. VAR_008041 Y Y ECO:0000269 PubMed:10220141 UniProtKB N ver_2 BP, ASD 5/11/2016 168 3300078389 curatus P01160 4878 NPPA Homo sapiens 9606 Feature/sequence variant 152-153:Missing; In allele 2. VAR_000594 Y Y UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078390 curatus P01160 4878 NPPA Homo sapiens 9606 Feature/sequence variant R150Q; In ATRST2. VAR_071307 Y Y ECO:0000269 PubMed:23275345 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078391 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant D561A; VAR_070305 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078393 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant M269R; In HHT1. VAR_070290 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078394 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant R529P; In HHT1. VAR_070300 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078395 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant I263S; In HHT1. VAR_070289 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078396 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant V315M; Found in a family with hereditary hemorrhagic talagiectasia; unknown pathological significance. VAR_070292 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078397 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant 192-198:Missing; In HHT1. VAR_005196 Y Y ECO:0000269 PubMed:9245986 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078398 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant L547P; In HHT1. VAR_070303 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078399 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant A175E; In HHT1. VAR_070282 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078400 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant C549Y; Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. VAR_070304 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078401 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant A150P; Found in a family with hereditary hemorrhagic talagiectasia; unknown pathological significance. VAR_070281 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078402 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant V236M; Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. VAR_070287 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078403 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant R205P; VAR_070284 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078404 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant 207:Missing; In HHT1. VAR_026777 Y Y ECO:0000269 PubMed:15024723 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078405 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant M414R; Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. VAR_070296 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078407 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant R437W; In HHT1. VAR_070297 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078408 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant K374E; Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. VAR_070294 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078409 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant I220T; In HHT1. VAR_070285 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078410 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant 263:Missing; In HHT1. VAR_026779 Y Y ECO:0000269 PubMed:15024723 PubMed:15712270 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078411 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant L221Q; In HHT1. VAR_070286 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078412 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant R529H; In HHT1. VAR_070299 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078413 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant G545S; VAR_070302 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078414 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant C363S; In HHT1. VAR_070293 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078415 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant V238E; In HHT1. VAR_070288 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078416 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant A604D; In HHT1. VAR_070307 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078417 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant L490S; In HHT1. VAR_070298 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078418 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant C394Y; In HHT1. VAR_070295 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078419 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant TL193-194VLQ; In HHT1. VAR_070283 Y Y ECO:0000269 PubMed:16525724 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078420 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant A308D; In HHT1. VAR_070291 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078421 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant G603R; In HHT1. VAR_070306 Y Y ECO:0000269 PubMed:20414677 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078422 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant V504M; In HHT1; dbSNP:rs116330805. VAR_026782 rs116330805 Y Y ECO:0000269 PubMed:15024723 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078423 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant V105D; In HHT1. VAR_070280 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078424 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant G545D; In HHT1. VAR_070301 Y Y ECO:0000269 PubMed:16525724 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078425 curatus P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant A11D; In HHT1. VAR_070279 Y Y ECO:0000269 PubMed:16752392 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 176 3300078426 curatus P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant P12A; Polymorphism; significant independent determinant of CIMT; may protect from early atherosclerosis in subject at risk for diabetes; associated with BMI; dbSNP:rs1801282. VAR_010723 rs1801282 Y Y ECO:0000269 PubMed:10394368 PubMed:10407229 PubMed:15562396 PubMed:9425261 submission: UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 220 3300078431 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant Q180R; In DRD. VAR_016900 Y Y ECO:0000269 PubMed:10825351 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078454 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant L79P; In DRD. VAR_002634 Y Y ECO:0000269 PubMed:7501255 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078455 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant R178S; In DRD. VAR_002642 Y Y ECO:0000269 PubMed:10582612 PubMed:10825351 PubMed:9120469 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078456 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant M102R; In DRD. VAR_016893 Y Y ECO:0000269 PubMed:10582612 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078457 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant M213V; In DRD. VAR_016904 Y Y ECO:0000269 PubMed:11113234 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078458 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant G83A; In DRD. VAR_016890 Y Y ECO:0000269 PubMed:10825351 PubMed:9778264 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078459 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant L71Q; In DRD. VAR_016888 Y Y ECO:0000269 PubMed:9778264 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078460 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant H144P; In DRD. VAR_002640 Y Y ECO:0000269 PubMed:8957022 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078461 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant G203R; In DRD. VAR_002646 Y Y ECO:0000269 PubMed:8852666 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078462 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant R88P; In DRD. VAR_002635 Y Y ECO:0000269 PubMed:8852666 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078463 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant T186K; In DRD. VAR_002644 Y Y ECO:0000269 PubMed:10582612 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078464 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant P23L; In DRD; dbSNP:rs41298432. VAR_002633 rs41298432 Y Y ECO:0000269 PubMed:9328244 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078465 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant R88W; In DRD. VAR_002636 Y Y ECO:0000269 PubMed:7874165 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078466 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant P199L; In DRD. VAR_016902 Y Y ECO:0000269 PubMed:10825351 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078467 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant F234S; In DRD. VAR_002649 Y Y ECO:0000269 PubMed:8852666 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078468 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant C141R; In DRD. VAR_016897 Y Y ECO:0000269 PubMed:10582612 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078470 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant M102K; In DRD. VAR_002637 Y Y ECO:0000269 PubMed:10582612 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078471 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant R241W; In DRD. VAR_016906 Y Y ECO:0000269 PubMed:9778264 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078472 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant D115N; In DRD. VAR_016895 Y Y ECO:0000269 PubMed:9328244 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078473 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant R249S; In DRD. VAR_016907 Y Y ECO:0000269 PubMed:10987649 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078474 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant G90V; In DRD. VAR_016892 Y Y ECO:0000269 PubMed:10076897 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078475 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant T106I; In DRD. VAR_054112 Y Y ECO:0000269 PubMed:17101830 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078476 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant 88-89:Missing; In DRD. VAR_016891 Y Y ECO:0000269 PubMed:10825351 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078477 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant C141W; In DRD. VAR_002639 Y Y ECO:0000269 PubMed:10582612 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078478 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant M211V; In DRD. VAR_016903 Y Y ECO:0000269 PubMed:9778264 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078479 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant H153P; In DRD. VAR_002641 Y Y ECO:0000269 PubMed:8852666 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078480 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant M211I; In HPABH4B; severe hyperphenylalaninemia. VAR_002647 Y Y ECO:0000269 PubMed:7501255 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078481 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant D134V; In DRD. VAR_002638 Y Y ECO:0000269 PubMed:7874165 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078482 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant A74V; In DRD. VAR_016889 Y Y ECO:0000269 PubMed:9778264 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078483 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant R184H; In HPABH4B; severe hyperphenylalaninemia. VAR_002643 Y Y ECO:0000269 PubMed:7501255 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078484 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant K224R; In HPABH4B and DRD; phenotype presenting with dystonia and myoclonus; dbSNP:rs41298442. VAR_002648 rs41298442 Y Y ECO:0000269 PubMed:12391354 PubMed:8852666 PubMed:9667588 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078485 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant G201E; In DRD. VAR_002645 Y Y ECO:0000269 PubMed:10825351 PubMed:7874165 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078486 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant V191I; In DRD. VAR_016901 Y Y ECO:0000269 PubMed:9778264 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078487 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant I135K; In DRD. VAR_016896 Y Y ECO:0000269 PubMed:10208576 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078488 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant S176T; In DRD. VAR_016899 Y Y ECO:0000269 PubMed:10582612 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078491 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant G108D; In HPABH4B; intermediate phenotype presenting with dystonia and motor delay. VAR_016894 Y Y ECO:0000269 PubMed:9667588 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078492 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant L163R; In DRD. VAR_016898 Y Y ECO:0000269 PubMed:11113234 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078493 curatus P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant M221T; In HPABH4B; intermediate phenotype presenting with dystonia and motor delay; compound heterozygote for an additional deletion. VAR_016905 Y Y ECO:0000269 PubMed:9667588 UniProtKB N ver_2 BP, DGA, ASD 3/16/2016 176 3300078494 curatus P50052 186 AGTR2 Homo sapiens 9606 Feature/sequence variant G21V; Rare variant found in patients with X-linked mental retardation; unknown pathological significance; dbSNP:rs121917810. VAR_065946 rs121917810 Y Y ECO:0000269 PubMed:12089445 PubMed:23871722 UniProtKB N ver_2 BP, DGA, AAE, ASD 3/16/2016 149 3300078542 curatus P50052 186 AGTR2 Homo sapiens 9606 Feature/sequence variant I337V; Rare variant found in patients with X-linked mental retardation; unknown pathological significance. VAR_065948 Y Y ECO:0000269 PubMed:12089445 UniProtKB N ver_2 BP, DGA, AAE, ASD 3/16/2016 149 3300078543 curatus P50052 186 AGTR2 Homo sapiens 9606 Feature/sequence variant R324Q; Rare variant found in patients with X-linked mental retardation; unknown pathological significance; dbSNP:rs35474657. VAR_065947 rs35474657 Y Y ECO:0000269 PubMed:12089445 PubMed:23871722 UniProtKB N ver_2 BP, DGA, AAE, ASD 3/16/2016 149 3300078544 curatus P30556 185 AGTR1 Homo sapiens 9606 Feature/sequence variant L222V; In dbSNP:rs17852013. VAR_070375 rs17852013 Y Y ECO:0000269 PubMed:15489334 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 166 3300078545 curatus P30556 185 AGTR1 Homo sapiens 9606 Feature/sequence variant P341H; In dbSNP:rs17852012. VAR_070376 rs17852012 Y Y ECO:0000269 PubMed:15489334 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 166 3300078546 curatus P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P12821-3;Isoform Testis-specific;ACE-T;Position 575-641:AGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID->MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN;In isoform Testis-specific. VSP_035121 Y Y ECO:0000303 UniProtKB N ver_2 BP, DGA, AAE, ASD 5/11/2016 206 3300078558 curatus P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P12821-3;Isoform Testis-specific;ACE-T;Position 1-574:Missing;In isoform Testis-specific. VSP_035120 Y Y ECO:0000303 UniProtKB N ver_2 BP, DGA, AAE, ASD 5/11/2016 206 3300078559 curatus P12821 1636 ACE Homo sapiens 9606 Feature/sequence variant D295N; VAR_074173 Y Y ECO:0000269 PubMed:25787250 UniProtKB N ver_2 BP, DGA, AAE, ASD 5/11/2016 206 3300078561 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant 15-20:Missing; Found in a family with osteoporosis pseudoglioma syndrome; impairs protein trafficking to the endoplasmic reticulum and cell membrane. VAR_058582 Y Y ECO:0000269 PubMed:19177549 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078630 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant M282V; In HBM; unknown pathological significance; lowered LRP5-mediated Wnt signaling; no effect on DKK1 binding. VAR_063412 Y Y ECO:0000269 PubMed:17295608 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078631 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T1540M; In dbSNP:rs141407040. VAR_063981 rs141407040 Y Y ECO:0000269 PubMed:15981244 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078632 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R1036Q; In primary osteoporosis; dbSNP:rs61889560. VAR_063974 rs61889560 Y Y ECO:0000269 PubMed:15824851 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078633 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant L540P; In EVR4; the mutation results in significantly reduced Norrin signal transduction. VAR_071013 Y Y ECO:0000269 PubMed:24715757 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078634 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant G171V; In HBM; also in HBM individuals with enlarged mandible and torus palatinus; abolishes interaction with MESD; impairs transport to cell surface; no enhancement of DKK1 binding by MESD resulting in impaired inhibition of Wnt signaling by DKK1. VAR_021809 Y Y ECO:0000269 PubMed:11741193 PubMed:12015390 PubMed:15143163 PubMed:19746449 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078635 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T798A; In EVR4; dbSNP:rs80358316. VAR_063972 rs80358316 Y Y ECO:0000269 PubMed:15981244 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078636 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant Q816P; Rare polymorphism; no effect on Norrin signal transduction. VAR_071014 Y Y ECO:0000269 PubMed:24715757 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078637 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant S356L; In idiopathic osteoporosis and OPPG; appears to traffic comparably than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. VAR_063950 Y Y ECO:0000269 PubMed:16234968 PubMed:16252235 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078638 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant N1121D; In EVR4; dbSNP:rs80358317. VAR_063977 rs80358317 Y Y ECO:0000269 PubMed:15981244 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078639 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T852M; In EVR4; de novo mutation found in a patient also carrying mutation P-540; unknown pathological significance; the mutation results in significantly reduced Norrin signal transduction. VAR_071015 Y Y ECO:0000269 PubMed:24715757 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078640 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant G404R; In OPPG; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; has 50% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. VAR_063953 Y Y ECO:0000269 PubMed:16252235 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078641 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant 18-20:Missing; VAR_021804 Y Y ECO:0000269 PubMed:12579474 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078642 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T173M; In EVR4; an individual with abnormal retinal vasculature and retinal folds; dbSNP:rs80358306. VAR_018465 rs80358306 Y Y ECO:0000269 PubMed:15024691 PubMed:16252235 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078643 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T390K; In OPPG; is unable to traffic normally; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. VAR_063951 Y Y ECO:0000269 PubMed:16252235 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078644 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant G610R; In EVR4 and OPPG; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; has 60% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. VAR_063968 Y Y ECO:0000269 PubMed:15981244 PubMed:16252235 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078645 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T244M; In OPPG; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. VAR_063946 Y Y ECO:0000269 PubMed:16252235 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078646 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant G520V; In OPPG; appears to traffic comparably than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; is unable to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. VAR_063963 Y Y ECO:0000269 PubMed:16252235 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078647 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant D434N; In OPPG; appears to traffic less well than does the wild-type protein; appears to be post-translationally modified similar to wild-type protein; has 50% of wild-type activity to transduce Wnt signal; has a significantly reduced ability to transduce Norrin signal. VAR_063955 Y Y ECO:0000269 PubMed:16252235 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078648 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A97V; In dbSNP:rs143433231. VAR_063942 rs143433231 Y Y ECO:0000269 PubMed:15981244 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078649 curatus O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A422T; In EVR4; the mutation results in significantly reduced Norrin signal transduction. VAR_071012 Y Y ECO:0000269 PubMed:24715757 UniProtKB N ver_2 DGA, BP 5/11/2016 161 3300078650 curatus Q99571 5025 P2RX4 Homo sapiens 9606 Feature/splice variant Q99571-3;Isoform 3;Position 149-175:Missing;In isoform 3. VSP_053813 Y Y ECO:0000303 UniProtKB N ver_2 BP 5/11/2016 150 3300078672 curatus P48506 2730 GCLM Homo sapiens 9606 Feature/splice variant P48507-2;Isoform 2;Position 43-64:Missing;In isoform 2. VSP_057008 Y Y ECO:0000303 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 145 3300078675 curatus P29474 4846 NOS3 Homo sapiens 9606 Feature/sequence variant E298D; Polymorphism; may be associated with susceptibility to coronary spasm; dbSNP:rs1799983. VAR_008037 rs1799983 Y Y ECO:0000269 PubMed:11740345 PubMed:14702039 PubMed:15489334 PubMed:17264164 PubMed:9737779 submission: UniProtKB N ver_2 BP, DGA, ASD 4/13/2016 197 3300078699 curatus P29474 4846 NOS3 Homo sapiens 9606 Feature/sequence variant R474C; Found in a colorectal cancer sample; somatic mutation. VAR_036303 Y Y ECO:0000269 PubMed:16959974 UniProtKB N ver_2 BP, DGA, ASD 4/13/2016 197 3300078700 curatus P29474 4846 NOS3 Homo sapiens 9606 Feature/sequence variant R602Q; Found in a colorectal cancer sample; somatic mutation. VAR_036304 Y Y ECO:0000269 PubMed:16959974 UniProtKB N ver_2 BP, DGA, ASD 4/13/2016 197 3300078701 curatus Q16568 9607 CARTPT Homo sapiens 9606 Feature/sequence variant S66T; In dbSNP:rs78242624. VAR_012200 rs78242624 Y Y ECO:0000269 PubMed:10905499 UniProtKB N ver_2 BP, ASD 1/20/2016 135 3300078720 curatus P37231 5468 PPARG Homo sapiens 9606 Comment/polymorphism Genetic variations in PPARG define the body mass index quantitative trait locus 1 (BMIQ1) [MIM:606641]. The body max index (BMI) reflects the amount of fat, lean mass, and body build. Y Y ECO:0000269 PubMed:10523018 PubMed:14569127 UniProtKB N ver_2 MIM links to phenotype, not disease BP, DGA, ASD 5/11/2016 220 3300078904 curatus P37231 5468 PPARG Homo sapiens 9606 Comment/polymorphism Genetic variations in PPARG influence the carotid intimal medial thickness (CIMT) [MIM:609338]. CIMT is a measure of atherosclerosis that is independently associated with traditional atherosclerotic cardiovascular disease risk factors and coronary atherosclerotic burden. 35 to 45% of the variability in multivariable-adjusted CIMT is explained by genetic factors. Y Y ECO:0000269 PubMed:15356014 UniProtKB N ver_2 BP, DGA, ASD 5/11/2016 220 3300078905