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 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 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) DGA, BP 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 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 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 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 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 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 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 4/3/2013 134 1100000303 curatus Q03135 857 CAV1 Homo sapiens 9606 Comment/alternative products/isoform Q03135-1;Isoform Alpha Y Y UniProtKB full length BP, DGA 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 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 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) BP, DGA 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 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 DGA, BP 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 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 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 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 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 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 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 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 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 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 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 BP, DGA 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 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 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 full length, functional protein, based on Comment/Function. BP, DGA 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 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 BP, DGA 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 BP, DGA, AAE 4/3/2013 172 1100001101 Faith Q03135 857 CAV1 Homo sapiens 9606 Comment/alternative products/isoform Q03135-2;Isoform Beta VSP_018692 Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Y Y UniProtKB BP, DGA 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 BP, DGA 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 BP, DGA 4/3/2013 134 1100001104 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 BP, DGA 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 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 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 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 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 4/3/2013 134 1100001130 curatus Q8IVI9 115677 NOSTRIN Homo sapiens 9606 Comment/alternative products/isoform Q8IVI9-1;Isoform 1 Y Y UniProtKB full 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 4/3/2013 126 1100001132 Faith P12821 1636 ACE Homo sapiens 9606 Comment/alternative products/isoform P22966-1;Isoform Testis-specific;ACE-T VSP_035120 VSP_035121 Variant in position: 32:S->P (in dbSNP:rs4317). Variant in position: 49:S->G (in dbSNP:rs4318). Y Y UniProtKB BP, DGA, AAE 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 BP 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 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 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 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 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 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 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 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 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 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 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 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 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 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 4/3/2013 148 1100001150 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 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 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 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 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 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 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 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 DGA, BP 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 DGA, BP 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 DGA, BP 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 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 BP, DGA 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 DGA, BP 1100002088 curatus P30411 624 BDKRB2 Homo sapiens 9606 Comment/alternative products/isoform P30411-2;Isoform Short VSP_001865 Y Y UniProtKB BP, DGA 1100003664 Mike Q07075 2028 ENPEP Homo sapiens 9606 Feature/sequence variant Q213R; In dbSNP:rs10004516. VAR_030359 rs10004516 Y Y ECO:0000006 PubMed:8346219 PubMed:8244382 PubMed:15815621 PubMed:15489334 UniProtKB BP, DGA 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 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 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:0000006 PubMed:9016352 submission: submission: UniProtKB BP 4/3/2013 118 3300009576 Rose P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T344A; In dbSNP:rs1047883. VAR_006834 rs1047883 Y Y ECO:0000006 PubMed:9711878 PubMed:12853138 UniProtKB BP, DGA 4/3/2013 155 3300009577 Rose P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T344S; In dbSNP:rs1047883. VAR_061752 rs1047883 Y Y UniProtKB BP, DGA 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:0000006 PubMed:1840546 UniProtKB BP, DGA 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:0000006 PubMed:1840546 UniProtKB BP, DGA 4/3/2013 155 3300009580 Rose P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T1406N; 30-40% higher activity; dbSNP:rs1047891. VAR_017569 rs1047891 Y Y ECO:0000006 PubMed:12955727 PubMed:20520828 PubMed:12853138 PubMed:1840546 PubMed:11407344 UniProtKB BP, DGA 4/3/2013 155 3300009581 Faith P30556 185 AGTR1 Homo sapiens 9606 Feature/sequence variant C289W; In dbSNP:rs1064533. VAR_011847 rs1064533 Y Y ECO:0000006 PubMed:8135787 UniProtKB BP, DGA 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:0000006 submission: UniProtKB DGA, BP 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:0000006 PubMed:8346219 UniProtKB BP, DGA 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:0000006 PubMed:15024691 PubMed:9714764 UniProtKB 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 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 DGA, BP 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 DGA, BP 4/3/2013 162 3300009590 Rose/Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant A17T; In HSCR4; dbSNP:rs11570255. VAR_009078 rs11570255 Y Y ECO:0000006 PubMed:9359047 submission: UniProtKB BP 4/3/2013 142 3300009591 Rose/Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant A17T; In HSCR4; dbSNP:rs11570255. VAR_009078 rs11570255 Y Y ECO:0000006 PubMed:9359047 submission: UniProtKB BP 4/3/2013 142 3300009593 Rose/Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant A224T; In HSCR4; dbSNP:rs11570351. VAR_009079 rs11570351 Y Y ECO:0000006 PubMed:9359047 UniProtKB BP 4/3/2013 142 3300009595 Rose/Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant A224T; In HSCR4; dbSNP:rs11570351. VAR_009079 rs11570351 Y Y ECO:0000006 PubMed:9359047 UniProtKB BP 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 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 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 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:0000006 submission: UniProtKB 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:0000006 PubMed:10329693 PubMed:15489334 PubMed:17918732 UniProtKB BP, DGA 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:0000006 PubMed:19713527 PubMed:18954143 PubMed:21793738 PubMed:17611497 UniProtKB BP, DGA 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:0000006 PubMed:2594780 PubMed:1729276 PubMed:15489334 PubMed:1629626 UniProtKB 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 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 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 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:0000006 submission: UniProtKB BP, DGA 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 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 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 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 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 BP, DGA 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 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 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 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 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 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 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 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:0000006 PubMed:12354786 UniProtKB 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:0000006 PubMed:15489334 UniProtKB 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:0000006 PubMed:15489334 UniProtKB DGA, BP 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:0000006 submission: UniProtKB BP, DGA 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:0000006 submission: UniProtKB BP, DGA 4/3/2013 121 3300009633 Mike P29474 4846 NOS3 Homo sapiens 9606 Feature/sequence variant E298D; In susceptibility to coronary spasm; dbSNP:rs1799983. VAR_008037 rs1799983 Y Y ECO:0000006 PubMed:17264164 submission: PubMed:14702039 PubMed:15489334 PubMed:9737779 PubMed:11740345 UniProtKB BP, DGA 4/3/2013 162 3300009634 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant T59P; In dbSNP:rs1800221. VAR_030116 rs1800221 Y Y ECO:0000006 PubMed:4011429 UniProtKB BP, DGA 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:0000006 PubMed:2824475 UniProtKB BP, DGA 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:0000006 PubMed:2824475 UniProtKB BP, DGA 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:0000006 PubMed:8829649 UniProtKB BP, DGA 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:0000006 PubMed:8723681 UniProtKB BP, DGA 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:0000006 PubMed:9753710 UniProtKB BP, DGA 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 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 4/3/2013 135 3300009644 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant P12A; 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:0000006 submission: PubMed:9425261 PubMed:9806549 PubMed:10407229 PubMed:10523018 PubMed:10394368 PubMed:14569127 PubMed:15356014 PubMed:15562396 UniProtKB BP, DGA 4/3/2013 184 3300009645 Rose/Faith 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:0000006 PubMed:8852660 PubMed:8630503 PubMed:11471546 PubMed:9760196 UniProtKB BP, DGA 4/3/2013 155 3300009646 Rose/Faith 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:0000006 PubMed:8852660 PubMed:8630503 PubMed:11471546 PubMed:9760196 UniProtKB BP, DGA 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 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 DGA, BP 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 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 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 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 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:0000006 PubMed:17344846 UniProtKB BP, DGA 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 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 DGA, BP 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 DGA, BP 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 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:0000006 PubMed:10329693 PubMed:15489334 UniProtKB BP, DGA 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:0000006 PubMed:15489334 UniProtKB 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 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:0000006 PubMed:2564851 PubMed:2901990 submission: UniProtKB BP, DGA 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/Faith 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:0000006 PubMed:1594605 PubMed:1346492 UniProtKB BP, DGA 4/3/2013 148 3300009667 Rose/Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R448H; In AH4; dbSNP:rs28934586. VAR_001265 rs28934586 Y Y ECO:0000006 PubMed:2022736 PubMed:16046588 UniProtKB BP, DGA 4/3/2013 148 3300009669 Rose/Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R448H; In AH4; dbSNP:rs28934586. VAR_001265 rs28934586 Y Y ECO:0000006 PubMed:2022736 PubMed:16046588 UniProtKB BP, DGA 4/3/2013 148 3300009671 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:0000006 PubMed:8640225 PubMed:14684682 PubMed:15024723 UniProtKB BP, DGA 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:0000006 PubMed:8640225 UniProtKB BP, DGA 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:0000006 PubMed:11170071 UniProtKB BP, DGA 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:0000006 PubMed:9245985 PubMed:11170071 PubMed:14684682 PubMed:15712270 UniProtKB BP, DGA 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:0000006 PubMed:14684682 UniProtKB BP, DGA 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:0000006 PubMed:10394368 UniProtKB BP, DGA 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:0000006 PubMed:10394368 UniProtKB BP, DGA 4/3/2013 184 3300009685 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant G211D; In HHT2; retained in the endoplasmic reticulum; dbSNP:rs28936687. VAR_026788 rs28936687 Y Y ECO:0000006 PubMed:14684682 UniProtKB BP, DGA 4/3/2013 149 3300009687 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:0000006 PubMed:10767348 PubMed:14684682 UniProtKB BP, DGA 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:0000006 PubMed:15346351 PubMed:16252235 UniProtKB DGA, BP 4/3/2013 126 3300009691 Rose/Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant H337R; In CPS1D; modestly decreases enzyme activity; dbSNP:rs28940283. VAR_014077 rs28940283 Y Y ECO:0000006 PubMed:11474210 PubMed:20578160 UniProtKB BP, DGA 4/3/2013 155 3300009693 Rose/Faith P42892 1889 ECE1 Homo sapiens 9606 Feature/sequence variant R754C; In HSCRCDAD; dbSNP:rs3026906. VAR_026747 rs3026906 Y Y ECO:0000006 PubMed:9915973 UniProtKB DGA, BP 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:0000006 PubMed:17344846 UniProtKB 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 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 DGA, BP 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 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:0000006 PubMed:9245986 UniProtKB BP, DGA 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 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:0000006 PubMed:9443882 UniProtKB BP, DGA 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 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 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 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:0000006 PubMed:14727154 PubMed:12579474 PubMed:15077203 PubMed:12509515 UniProtKB 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:0000006 PubMed:2824475 PubMed:9443882 PubMed:6687691 UniProtKB BP, DGA 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:0000006 submission: UniProtKB BP, DGA 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:0000006 submission: UniProtKB BP, DGA 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:0000006 submission: UniProtKB BP, DGA 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:0000006 submission: UniProtKB BP, DGA 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:0000006 PubMed:2824475 PubMed:9443882 PubMed:6687691 UniProtKB BP, DGA 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:0000006 PubMed:2824475 PubMed:9443882 PubMed:3421913 UniProtKB BP, DGA 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:0000006 PubMed:2824475 PubMed:9443882 PubMed:9016532 PubMed:3421913 PubMed:6687691 UniProtKB BP, DGA 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:0000006 PubMed:7744780 UniProtKB DGA, BP 4/3/2013 162 3300009725 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant P23L; In DYT5; dbSNP:rs41298432. VAR_002633 rs41298432 Y Y ECO:0000006 PubMed:9328244 UniProtKB BP, DGA 4/3/2013 145 3300009727 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant K224R; In GCH1D and DYT5; phenotype presenting with dystonia and myoclonus; dbSNP:rs41298442. VAR_002648 rs41298442 Y Y ECO:0000006 PubMed:9667588 PubMed:8852666 PubMed:12391354 UniProtKB BP, DGA 4/3/2013 145 3300009729 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant K224R; In GCH1D and DYT5; phenotype presenting with dystonia and myoclonus; dbSNP:rs41298442. VAR_002648 rs41298442 Y Y ECO:0000006 PubMed:9667588 PubMed:8852666 PubMed:12391354 UniProtKB BP, DGA 4/3/2013 145 3300009731 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant N528S; In dbSNP:rs41317144. VAR_033040 rs41317144 Y Y ECO:0000006 PubMed:18272325 UniProtKB BP, DGA 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:0000006 PubMed:18272325 UniProtKB BP, DGA 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 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:0000006 PubMed:2824475 PubMed:9443882 UniProtKB BP, DGA 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:0000006 PubMed:14727154 PubMed:12579474 UniProtKB 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:0000006 PubMed:2824475 PubMed:9443882 PubMed:9016532 PubMed:6687691 PubMed:2364107 PubMed:6309769 PubMed:6092353 UniProtKB BP, DGA 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:0000006 PubMed:2824475 PubMed:9443882 PubMed:6687691 UniProtKB BP, DGA 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:0000006 PubMed:18996919 PubMed:2824475 PubMed:18272325 PubMed:9016532 PubMed:15489334 PubMed:2839839 PubMed:8456808 UniProtKB BP, DGA 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 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 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:0000006 PubMed:10319862 UniProtKB BP, DGA, AAE 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:0000006 PubMed:10319862 UniProtKB BP, DGA, AAE 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:0000006 PubMed:10319862 PubMed:10391210 UniProtKB BP, DGA, AAE 4/3/2013 172 3300009745 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R43Q; In dbSNP:rs4534. VAR_014146 rs4534 Y Y ECO:0000006 PubMed:10391209 PubMed:2401360 PubMed:10391210 UniProtKB BP, DGA 4/3/2013 148 3300009746 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant N281S; In dbSNP:rs4537. VAR_014154 rs4537 Y Y ECO:0000006 PubMed:10391209 PubMed:10391210 UniProtKB BP, DGA 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 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:0000006 PubMed:10391209 PubMed:9931115 PubMed:10391210 UniProtKB BP, DGA 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:0000006 PubMed:10391209 PubMed:2401360 PubMed:3499608 UniProtKB BP, DGA 4/3/2013 148 3300009750 Rose/Faith 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:rs4541. VAR_001269 rs4541 Y Y ECO:0000006 PubMed:10391209 PubMed:10391210 PubMed:1594605 PubMed:1346492 PubMed:9814506 UniProtKB BP, DGA 4/3/2013 148 3300009751 Rose P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant I339T; In dbSNP:rs4544. VAR_014155 rs4544 Y Y ECO:0000006 PubMed:10391209 PubMed:10391210 UniProtKB BP, DGA 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:0000006 PubMed:10391209 PubMed:10391210 UniProtKB BP, DGA 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:0000006 PubMed:10391209 PubMed:10391210 UniProtKB BP, DGA 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:0000006 PubMed:8454293 UniProtKB BP, DGA 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:0000006 submission: UniProtKB BP, DGA 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:0000006 PubMed:1394429 UniProtKB DGA, BP 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:0000006 PubMed:12446846 submission: PubMed:14702039 PubMed:15489334 UniProtKB 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:0000006 PubMed:10391210 UniProtKB BP, DGA, AAE 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:0000006 PubMed:10391210 UniProtKB BP, DGA, AAE 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:0000006 PubMed:10391210 UniProtKB BP, DGA, AAE 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:0000006 PubMed:10391210 UniProtKB BP, DGA, AAE 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:0000006 PubMed:11719191 PubMed:12579474 PubMed:15077203 UniProtKB 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 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:0000006 submission: UniProtKB BP, DGA 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:0000006 PubMed:7607642 UniProtKB DGA, BP 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 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:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 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:0000006 PubMed:3872459 PubMed:2571128 PubMed:6148938 UniProtKB BP, DGA 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 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:0000006 PubMed:15489334 UniProtKB BP, DGA 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 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:0000006 PubMed:10391210 UniProtKB BP, DGA 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 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 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:0000006 PubMed:10391210 UniProtKB BP, DGA 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 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 BP, DGA 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 BP, DGA 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 BP, DGA 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 BP, DGA 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 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 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 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 4/3/2013 155 3300009788 Rose/Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant S305N; In HSCR2; familial; dbSNP:rs5352. VAR_003472 rs5352 Y Y ECO:0000006 PubMed:8852659 submission: UniProtKB BP, DGA 4/3/2013 155 3300009789 Faith P05305 1906 EDN1 Homo sapiens 9606 Feature/sequence variant K198N; In dbSNP:rs5370. VAR_014188 rs5370 Y Y ECO:0000006 submission: PubMed:15489334 PubMed:10334806 PubMed:10391210 UniProtKB BP, DGA, AAE 4/3/2013 151 3300009791 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:0000006 PubMed:1394429 PubMed:7607642 PubMed:8621667 UniProtKB alters glycosylation and secretion of angiotensinogen DGA, BP 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:0000006 PubMed:16116425 UniProtKB BP, DGA, AAE 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:0000006 PubMed:10391209 UniProtKB BP, DGA 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:0000006 PubMed:10391209 UniProtKB BP, DGA 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 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:0000006 PubMed:10391209 UniProtKB BP, DGA 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:0000006 PubMed:10391209 UniProtKB BP, DGA 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 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:0000006 PubMed:1394429 PubMed:8513325 UniProtKB DGA, BP 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:0000006 PubMed:1394429 PubMed:8513325 UniProtKB DGA, BP 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:0000006 PubMed:21179162 UniProtKB BP 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 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:0000006 PubMed:21179162 UniProtKB BP 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:0000006 PubMed:21179162 UniProtKB BP 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 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:0000006 PubMed:2901990 UniProtKB BP, DGA 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:0000006 submission: UniProtKB BP, DGA 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:0000006 submission: UniProtKB BP, DGA 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:0000006 submission: UniProtKB BP, DGA 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:0000006 submission: UniProtKB BP, DGA 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:0000006 submission: UniProtKB BP, DGA 4/3/2013 148 3300009818 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant 15-20; Found in a family with osteoporosis pseudoglioma syndrome; impairs protein trafficking to the endoplasmic reticulum and cell membrane. VAR_058582 Y Y UniProtKB DGA, BP 4/3/2013 126 3300009819 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant 18-20; VAR_021804 Y Y UniProtKB DGA, BP 4/3/2013 126 3300009821 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant L20LL; VAR_021805 Y Y ECO:0000006 PubMed:12579474 UniProtKB 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:0000006 PubMed:15824851 UniProtKB DGA, BP 4/3/2013 126 3300009823 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A97V; VAR_063942 Y Y ECO:0000006 PubMed:15981244 UniProtKB DGA, BP 4/3/2013 126 3300009825 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant D111Y; In OPTA1. VAR_021807 Y Y ECO:0000006 PubMed:12579474 UniProtKB 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:0000006 PubMed:15981244 UniProtKB 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:0000006 PubMed:15824861 UniProtKB 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:0000006 PubMed:12579474 UniProtKB DGA, BP 4/3/2013 126 3300009832 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant G171V; In HBM; also in HBM individuals with enlarged mandible and torus palatinus; no enhancement of DKK1 binding by MESD resulting in impaired inhibition of Wnt signaling by DKK1. VAR_021809 Y Y ECO:0000006 PubMed:19746449 PubMed:11741193 PubMed:12015390 UniProtKB DGA, BP 4/3/2013 126 3300009834 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant G171V; In HBM; also in HBM individuals with enlarged mandible and torus palatinus; no enhancement of DKK1 binding by MESD resulting in impaired inhibition of Wnt signaling by DKK1. VAR_021809 Y Y ECO:0000006 PubMed:19746449 PubMed:11741193 PubMed:12015390 UniProtKB DGA, BP 4/3/2013 126 3300009836 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T173M; In EVR4; an individual with abnormal retinal vasculature and retinal folds. VAR_018465 Y Y ECO:0000006 PubMed:15024691 PubMed:16252235 UniProtKB DGA, BP 4/3/2013 126 3300009837 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant D203N; In OPPG. VAR_063945 Y Y ECO:0000006 PubMed:16252235 UniProtKB 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:0000006 PubMed:12579474 UniProtKB 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:0000006 PubMed:12579474 UniProtKB 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:0000006 PubMed:12579474 UniProtKB 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:0000006 PubMed:12579474 UniProtKB 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:0000006 PubMed:12579474 UniProtKB DGA, BP 4/3/2013 126 3300009849 Mike 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 postranslationally 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:0000006 PubMed:16252235 UniProtKB f/u on phenotype DGA, BP 4/3/2013 126 3300009851 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T253I; In OPTA1. VAR_021813 Y Y ECO:0000006 PubMed:12579474 UniProtKB DGA, BP 4/3/2013 126 3300009853 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant M282V; In HBM; lowered LRP5-mediated Wnt signaling. No effect on DKK1 binding. VAR_063412 Y Y UniProtKB f/u on phenotype DGA, BP 4/3/2013 126 3300009855 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant S307F; In OPPG. VAR_063947 Y Y ECO:0000006 PubMed:16252235 UniProtKB 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:0000006 PubMed:16252235 UniProtKB 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:0000006 PubMed:16252235 UniProtKB DGA, BP 4/3/2013 126 3300009861 Mike 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 postranslationally 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:0000006 PubMed:16252235 PubMed:16234968 UniProtKB f/u on phenotype DGA, BP 4/3/2013 126 3300009863 Mike 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 postranslationally 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:0000006 PubMed:16252235 PubMed:16234968 UniProtKB f/u on phenotype DGA, BP 4/3/2013 126 3300009865 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T390K; In OPPG; is unable to traffic normally; appears to be postranslationally 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:0000006 PubMed:16252235 UniProtKB f/u on phenotype DGA, BP 4/3/2013 126 3300009867 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A400E; In OPPG. VAR_063952 Y Y ECO:0000006 PubMed:16252235 UniProtKB DGA, BP 4/3/2013 126 3300009869 Mike 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 postranslationally 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:0000006 PubMed:16252235 UniProtKB f/u on phenotype DGA, BP 4/3/2013 126 3300009871 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T409A; In OPPG. VAR_063954 Y Y ECO:0000006 PubMed:18602879 UniProtKB DGA, BP 4/3/2013 126 3300009873 Mike 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 postranslationally 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:0000006 PubMed:16252235 UniProtKB f/u on phenotype DGA, BP 4/3/2013 126 3300009875 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant E441K; In EVR4. VAR_063956 Y Y ECO:0000006 PubMed:20340138 UniProtKB 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:0000006 PubMed:15981244 UniProtKB 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:0000006 PubMed:16234968 UniProtKB 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:0000006 PubMed:16252235 UniProtKB 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:0000006 PubMed:16679074 UniProtKB 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:0000006 PubMed:16252235 PubMed:11719191 UniProtKB 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:0000006 PubMed:16679074 UniProtKB 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:0000006 PubMed:19324841 UniProtKB DGA, BP 4/3/2013 126 3300009891 Mike 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 postranslationally 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:0000006 PubMed:16252235 UniProtKB f/u on phenotype DGA, BP 4/3/2013 126 3300009893 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant A522T; In EVR4. VAR_063964 Y Y ECO:0000006 PubMed:15981244 UniProtKB 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:0000006 PubMed:17437160 UniProtKB 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:0000006 PubMed:15981244 UniProtKB 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:0000006 PubMed:16929062 UniProtKB 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:0000006 PubMed:15346351 PubMed:16252235 UniProtKB 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:0000006 PubMed:16252235 PubMed:11719191 UniProtKB DGA, BP 4/3/2013 126 3300009905 Mike 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 postranslationally 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:0000006 PubMed:16252235 PubMed:15981244 UniProtKB f/u on phenotype DGA, BP 4/3/2013 126 3300009907 Mike 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 postranslationally 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:0000006 PubMed:16252235 PubMed:15981244 UniProtKB f/u on phenotype DGA, BP 4/3/2013 126 3300009909 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant F617C; In EVR4; autosomal recessive. VAR_063969 Y Y ECO:0000006 PubMed:15981244 UniProtKB 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:0000006 PubMed:16252235 UniProtKB 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:0000006 PubMed:16252235 UniProtKB 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:0000006 PubMed:15346351 UniProtKB DGA, BP 4/3/2013 126 3300009917 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T798A; In EVR4. VAR_063972 Y Y ECO:0000006 PubMed:15981244 UniProtKB DGA, BP 4/3/2013 126 3300009919 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R805W; In EVR4. VAR_063973 Y Y ECO:0000006 PubMed:19324841 UniProtKB DGA, BP 4/3/2013 126 3300009921 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant R1036Q; In primary osteoporosis. VAR_063974 Y Y ECO:0000006 PubMed:15824851 UniProtKB DGA, BP 4/3/2013 126 3300009923 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant D1099Y; In OPPG. VAR_063975 Y Y ECO:0000006 PubMed:16252235 UniProtKB 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:0000006 PubMed:16252235 UniProtKB DGA, BP 4/3/2013 126 3300009927 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant N1121D; In EVR4. VAR_063977 Y Y ECO:0000006 PubMed:15981244 UniProtKB DGA, BP 4/3/2013 126 3300009929 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:0000006 PubMed:15024691 PubMed:16252235 UniProtKB 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:0000006 PubMed:20340138 UniProtKB 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:0000006 PubMed:15024691 PubMed:16252235 UniProtKB 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:0000006 PubMed:16252235 UniProtKB 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:0000006 PubMed:16234968 UniProtKB DGA, BP 4/3/2013 126 3300009939 Mike O75197 4041 LRP5 Homo sapiens 9606 Feature/sequence variant T1540M; VAR_063981 Y Y ECO:0000006 PubMed:15981244 UniProtKB DGA, BP 4/3/2013 126 3300009940 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/mutagenesis site L23{FWY}; Decreases affinity for NADP and dihydrofolate over 10-fold. Y Y ECO:0000006 PubMed:7890613 PubMed:15681865 UniProtKB BP 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:0000006 PubMed:7890613 PubMed:15681865 UniProtKB BP 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:0000006 PubMed:19478082 UniProtKB BP 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:0000006 PubMed:15039552 PubMed:19196009 PubMed:19478082 UniProtKB BP 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:0000006 PubMed:15039552 PubMed:19196009 PubMed:19478082 UniProtKB BP 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:0000006 PubMed:15039552 PubMed:19196009 PubMed:19478082 UniProtKB BP 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:0000006 PubMed:15039552 PubMed:19196009 UniProtKB BP 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:0000006 PubMed:15039552 PubMed:19196009 UniProtKB BP 4/3/2013 151 3300009949 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/sequence variant L80F; In DHFRD. VAR_065818 Y Y ECO:0000006 PubMed:21310276 UniProtKB BP 4/3/2013 151 3300009950 Faith P00374 1719 DHFR Homo sapiens 9606 Feature/sequence variant D153V; In DHFRD. VAR_065819 Y Y ECO:0000006 PubMed:21310277 UniProtKB BP 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:0000006 PubMed:19664745 UniProtKB BP, DGA 4/3/2013 165 3300009952 Mike P00797 5972 REN Homo sapiens 9606 Feature/sequence variant D104N; In RTD. VAR_035088 Y Y ECO:0000006 PubMed:16116425 UniProtKB BP, DGA 4/3/2013 165 3300009953 Mike P00797 5972 REN Homo sapiens 9606 Feature/sequence variant R230K; In RTD. VAR_035087 Y Y ECO:0000006 PubMed:16116425 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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:0000006 PubMed:7607642 UniProtKB DGA, BP 4/3/2013 162 3300009958 Faith P01019 183 AGT Homo sapiens 9606 Feature/sequence variant R375Q; In RTD. VAR_035433 Y Y ECO:0000006 PubMed:16116425 UniProtKB DGA, BP 4/3/2013 162 3300009960 Mike P01160 4878 NPPA Homo sapiens 9606 Feature/mutagenesis site R123G; Loss of cleavage by CORIN. Y Y ECO:0000006 PubMed:10880574 UniProtKB BP, DGA 4/3/2013 149 3300009963 Mike P01160 4878 NPPA Homo sapiens 9606 Feature/sequence variant 152-153; In allele 2. VAR_000594 Y Y UniProtKB BP, DGA 4/3/2013 149 3300009964 Faith P07900 3320 HSP90AA1 Homo sapiens 9606 Feature/mutagenesis site G97D; Abolishes ATPase activity. Y Y ECO:0000006 PubMed:18256191 UniProtKB BP 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:0000006 PubMed:15937123 PubMed:19696785 UniProtKB BP 4/3/2013 178 3300009966 Faith P07900 3320 HSP90AA1 Homo sapiens 9606 Feature/mutagenesis site C598S; Loss of S-nitrosylation. Y Y ECO:0000006 PubMed:15937123 PubMed:19696785 UniProtKB BP 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 UniProtKB BP 4/3/2013 178 3300009968 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 76-93; In EDS7B. VAR_001851 Y Y UniProtKB BP, DGA 4/3/2013 157 3300009969 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 76-93; In EDS7B. VAR_001851 Y Y UniProtKB BP, DGA 4/3/2013 157 3300009971 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 181-198; In OI4. VAR_030117 Y Y UniProtKB BP, DGA 4/3/2013 157 3300009973 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 181-198; In OI4. VAR_030117 Y Y UniProtKB BP, DGA 4/3/2013 157 3300009975 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G193S; In OI4. VAR_063343 Y Y ECO:0000006 PubMed:16879195 UniProtKB BP, DGA 4/3/2013 157 3300009977 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G193S; In OI4. VAR_063343 Y Y ECO:0000006 PubMed:16879195 UniProtKB BP, DGA 4/3/2013 157 3300009979 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G202R; In OI4. VAR_063344 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300009981 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G202R; In OI4. VAR_063344 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300009983 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G211D; In OI1. VAR_001852 Y Y ECO:0000006 PubMed:8829649 UniProtKB BP, DGA 4/3/2013 157 3300009985 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G211D; In OI1. VAR_001852 Y Y ECO:0000006 PubMed:8829649 UniProtKB BP, DGA 4/3/2013 157 3300009987 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant R234C; In OI2. VAR_063345 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300009989 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant R234C; In OI2. VAR_063345 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300009991 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G247R; In OI1. VAR_063346 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300009993 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G247R; In OI1. VAR_063346 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300009995 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G253D; In OI2. VAR_063347 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300009997 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G253D; In OI2. VAR_063347 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300009999 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G256V; In OI4. VAR_063348 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300010001 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G256V; In OI4. VAR_063348 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300010003 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G283R; In OI2. VAR_063349 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010005 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G283R; In OI2. VAR_063349 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010007 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G319R; In OI1. VAR_063350 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300010009 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G319R; In OI1. VAR_063350 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300010011 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G325E; In OI4. VAR_063351 Y Y ECO:0000006 PubMed:16705691 UniProtKB BP, DGA 4/3/2013 157 3300010013 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G325E; In OI4. VAR_063351 Y Y ECO:0000006 PubMed:16705691 UniProtKB BP, DGA 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:0000006 PubMed:16705691 PubMed:7860070 UniProtKB BP, DGA 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:0000006 PubMed:16705691 PubMed:7860070 UniProtKB BP, DGA 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 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 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 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 4/21/2014 3 3300010027 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G331D; In OI3. VAR_008119 Y Y ECO:0000006 PubMed:10408781 UniProtKB BP, DGA 4/3/2013 157 3300010029 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G331D; In OI3. VAR_008119 Y Y ECO:0000006 PubMed:10408781 UniProtKB BP, DGA 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 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 4/3/2013 157 3300010035 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G337C; In OI3. VAR_001857 Y Y ECO:0000006 PubMed:10408781 UniProtKB BP, DGA 4/3/2013 157 3300010037 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G337C; In OI3. VAR_001857 Y Y ECO:0000006 PubMed:10408781 UniProtKB BP, DGA 4/3/2013 157 3300010039 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G337S; In OI3. VAR_001858 Y Y ECO:0000006 PubMed:8829649 UniProtKB BP, DGA 4/3/2013 157 3300010041 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G337S; In OI3. VAR_001858 Y Y ECO:0000006 PubMed:8829649 UniProtKB BP, DGA 4/3/2013 157 3300010043 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 345; In OI3. VAR_001859 Y Y ECO:0000006 PubMed:8444468 UniProtKB BP, DGA 4/3/2013 157 3300010045 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 345; In OI3. VAR_001859 Y Y ECO:0000006 PubMed:8444468 UniProtKB BP, DGA 4/3/2013 157 3300010047 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G349C; In OI3. VAR_001860 Y Y ECO:0000006 PubMed:1990009 PubMed:8456807 UniProtKB BP, DGA 4/3/2013 157 3300010049 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G349C; In OI3. VAR_001860 Y Y ECO:0000006 PubMed:1990009 PubMed:8456807 UniProtKB BP, DGA 4/3/2013 157 3300010051 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G358S; In OI3. VAR_063352 Y Y ECO:0000006 PubMed:16705691 UniProtKB BP, DGA 4/3/2013 157 3300010053 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G358S; In OI3. VAR_063352 Y Y ECO:0000006 PubMed:16705691 UniProtKB BP, DGA 4/3/2013 157 3300010055 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G397E; In OI2. VAR_063353 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010057 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G397E; In OI2. VAR_063353 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010059 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G409V; In OI2. VAR_001861 Y Y ECO:0000006 PubMed:10627137 UniProtKB BP, DGA 4/3/2013 157 3300010061 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G409V; In OI2. VAR_001861 Y Y ECO:0000006 PubMed:10627137 UniProtKB BP, DGA 4/3/2013 157 3300010063 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G433E; In OI2. VAR_001862 Y Y ECO:0000006 PubMed:7906591 UniProtKB BP, DGA 4/3/2013 157 3300010065 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G433E; In OI2. VAR_001862 Y Y ECO:0000006 PubMed:7906591 UniProtKB BP, DGA 4/3/2013 157 3300010067 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G454C; In OI2. VAR_063354 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010069 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G454C; In OI2. VAR_063354 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 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:0000006 PubMed:18996919 UniProtKB BP, DGA 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:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010075 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G460S; In OI3. VAR_001863 Y Y ECO:0000006 PubMed:8829649 UniProtKB BP, DGA 4/3/2013 157 3300010077 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G460S; In OI3. VAR_001863 Y Y ECO:0000006 PubMed:8829649 UniProtKB BP, DGA 4/3/2013 157 3300010079 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 461-466; In OI2. VAR_063356 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010081 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 461-466; In OI2. VAR_063356 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010083 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G511D; In OI2. VAR_001864 Y Y UniProtKB BP, DGA 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 4/3/2013 157 3300010087 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G517R; In OI3. VAR_001865 Y Y ECO:0000006 PubMed:7520724 UniProtKB BP, DGA 4/3/2013 157 3300010089 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G517R; In OI3. VAR_001865 Y Y ECO:0000006 PubMed:7520724 UniProtKB BP, DGA 4/3/2013 157 3300010091 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G526E; In OI2. VAR_063357 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010093 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G526E; In OI2. VAR_063357 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010095 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G547R; In OI2. VAR_001866 Y Y ECO:0000006 PubMed:1284475 UniProtKB BP, DGA 4/3/2013 157 3300010097 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G547R; In OI2. VAR_001866 Y Y ECO:0000006 PubMed:1284475 UniProtKB BP, DGA 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 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 4/3/2013 157 3300010103 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G562V; In OI2. VAR_063358 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010105 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G562V; In OI2. VAR_063358 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 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 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 4/3/2013 157 3300010111 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G592S; In OI2. VAR_001870 Y Y ECO:0000006 PubMed:7959683 UniProtKB BP, DGA 4/3/2013 157 3300010113 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G592S; In OI2. VAR_001870 Y Y ECO:0000006 PubMed:7959683 UniProtKB BP, DGA 4/3/2013 157 3300010115 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G601S; In OI. VAR_063359 Y Y ECO:0000006 PubMed:16705691 UniProtKB BP, DGA 4/3/2013 157 3300010117 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G601S; In OI. VAR_063359 Y Y ECO:0000006 PubMed:16705691 UniProtKB BP, DGA 4/3/2013 157 3300010119 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G625D; In OI2. VAR_063360 Y Y ECO:0000006 PubMed:16879195 UniProtKB BP, DGA 4/3/2013 157 3300010121 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G625D; In OI2. VAR_063360 Y Y ECO:0000006 PubMed:16879195 UniProtKB BP, DGA 4/3/2013 157 3300010123 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G634V; In OI4. VAR_001871 Y Y ECO:0000006 PubMed:8401517 UniProtKB BP, DGA 4/3/2013 157 3300010125 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G634V; In OI4. VAR_001871 Y Y ECO:0000006 PubMed:8401517 UniProtKB BP, DGA 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 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 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 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 4/3/2013 157 3300010135 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G670D; In OI2. VAR_001874 Y Y ECO:0000006 PubMed:1385413 UniProtKB BP, DGA 4/3/2013 157 3300010137 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G670D; In OI2. VAR_001874 Y Y ECO:0000006 PubMed:1385413 UniProtKB BP, DGA 4/3/2013 157 3300010139 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 676-855; In OI2. VAR_030120 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010141 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 676-855; In OI2. VAR_030120 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010143 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G676D; In OI3. VAR_063361 Y Y ECO:0000006 PubMed:16705691 UniProtKB BP, DGA 4/3/2013 157 3300010145 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G676D; In OI3. VAR_063361 Y Y ECO:0000006 PubMed:16705691 UniProtKB BP, DGA 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:0000006 PubMed:7881420 PubMed:2064612 UniProtKB BP, DGA 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:0000006 PubMed:7881420 PubMed:2064612 UniProtKB BP, DGA 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:0000006 PubMed:7881420 PubMed:2064612 UniProtKB BP, DGA 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:0000006 PubMed:7881420 PubMed:2064612 UniProtKB BP, DGA 4/3/2013 157 3300010155 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 705-707; In OI2. VAR_063362 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010157 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 705-707; In OI2. VAR_063362 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010159 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant R708Q; In Marfan syndrome. VAR_001876 Y Y UniProtKB BP, DGA 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 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 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 4/3/2013 157 3300010167 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G730C; In OI2. VAR_001878 Y Y ECO:0000006 PubMed:7891382 UniProtKB BP, DGA 4/3/2013 157 3300010169 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G730C; In OI2. VAR_001878 Y Y ECO:0000006 PubMed:7891382 UniProtKB BP, DGA 4/3/2013 157 3300010171 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G733C; In OI1. VAR_063363 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300010173 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G733C; In OI1. VAR_063363 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300010175 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G736C; In OI1; mild. VAR_001879 Y Y ECO:0000006 PubMed:1990009 PubMed:8456807 UniProtKB BP, DGA 4/3/2013 157 3300010177 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G736C; In OI1; mild. VAR_001879 Y Y ECO:0000006 PubMed:1990009 PubMed:8456807 UniProtKB BP, DGA 4/3/2013 157 3300010179 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G739R; In OI2. VAR_063364 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010181 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G739R; In OI2. VAR_063364 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010183 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G748V; In OI2. VAR_063365 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010185 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G748V; In OI2. VAR_063365 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010187 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G751S; In OI4. VAR_001881 Y Y ECO:0000006 PubMed:2052622 UniProtKB BP, DGA 4/3/2013 157 3300010189 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G751S; In OI4. VAR_001881 Y Y ECO:0000006 PubMed:2052622 UniProtKB BP, DGA 4/3/2013 157 3300010191 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G754C; In OI4. VAR_063366 Y Y ECO:0000006 PubMed:16879195 UniProtKB BP, DGA 4/3/2013 157 3300010193 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G754C; In OI4. VAR_063366 Y Y ECO:0000006 PubMed:16879195 UniProtKB BP, DGA 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 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 4/3/2013 157 3300010199 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G766V; In OI4. VAR_001883 Y Y ECO:0000006 PubMed:7693712 UniProtKB BP, DGA 4/3/2013 157 3300010201 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G766V; In OI4. VAR_001883 Y Y ECO:0000006 PubMed:7693712 UniProtKB BP, DGA 4/3/2013 157 3300010203 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G778S; In OI3. VAR_001884 Y Y ECO:0000006 PubMed:7720740 UniProtKB BP, DGA 4/3/2013 157 3300010205 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G778S; In OI3. VAR_001884 Y Y ECO:0000006 PubMed:7720740 UniProtKB BP, DGA 4/3/2013 157 3300010207 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G784R; In OI2. VAR_001885 Y Y ECO:0000006 PubMed:1874719 UniProtKB BP, DGA 4/3/2013 157 3300010209 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G784R; In OI2. VAR_001885 Y Y ECO:0000006 PubMed:1874719 UniProtKB BP, DGA 4/3/2013 157 3300010211 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G787C; In OI2. VAR_001886 Y Y ECO:0000006 PubMed:10627137 UniProtKB BP, DGA 4/3/2013 157 3300010213 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G787C; In OI2. VAR_001886 Y Y ECO:0000006 PubMed:10627137 UniProtKB BP, DGA 4/3/2013 157 3300010215 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G790D; In OI2. VAR_001887 Y Y ECO:0000006 PubMed:8182080 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010217 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G790D; In OI2. VAR_001887 Y Y ECO:0000006 PubMed:8182080 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010219 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G796S; In OI2. VAR_001888 Y Y ECO:0000006 PubMed:7693712 UniProtKB BP, DGA 4/3/2013 157 3300010221 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G796S; In OI2. VAR_001888 Y Y ECO:0000006 PubMed:7693712 UniProtKB BP, DGA 4/3/2013 157 3300010223 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant P798PP; In OI2. VAR_063367 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010225 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant P798PP; In OI2. VAR_063367 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010227 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 806-811; In OI2. VAR_063368 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010229 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 806-811; In OI2. VAR_063368 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010231 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G811GPPG; In OI4. VAR_063369 Y Y UniProtKB BP, DGA 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 4/3/2013 157 3300010235 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G820S; In OI3. VAR_063370 Y Y ECO:0000006 PubMed:16705691 UniProtKB BP, DGA 4/3/2013 157 3300010237 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G820S; In OI3. VAR_063370 Y Y ECO:0000006 PubMed:16705691 UniProtKB BP, DGA 4/3/2013 157 3300010239 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G835C; In OI3. VAR_063371 Y Y ECO:0000006 PubMed:16879195 UniProtKB BP, DGA 4/3/2013 157 3300010241 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G835C; In OI3. VAR_063371 Y Y ECO:0000006 PubMed:16879195 UniProtKB BP, DGA 4/3/2013 157 3300010243 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G835S; In OI1. VAR_001890 Y Y ECO:0000006 PubMed:8829649 UniProtKB BP, DGA 4/3/2013 157 3300010245 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G835S; In OI1. VAR_001890 Y Y ECO:0000006 PubMed:8829649 UniProtKB BP, DGA 4/3/2013 157 3300010247 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G856R; In OI3. VAR_063372 Y Y ECO:0000006 PubMed:16705691 UniProtKB BP, DGA 4/3/2013 157 3300010249 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G856R; In OI3. VAR_063372 Y Y ECO:0000006 PubMed:16705691 UniProtKB BP, DGA 4/3/2013 157 3300010251 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G856V; In OI2. VAR_063373 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010253 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G856V; In OI2. VAR_063373 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010255 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G877C; In OI2. VAR_001891 Y Y ECO:0000006 submission: UniProtKB BP, DGA 4/3/2013 157 3300010257 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G877C; In OI2. VAR_001891 Y Y ECO:0000006 submission: UniProtKB BP, DGA 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:0000006 PubMed:8800927 UniProtKB BP, DGA 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:0000006 PubMed:8800927 UniProtKB BP, DGA 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:0000006 PubMed:8800927 UniProtKB BP, DGA 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:0000006 PubMed:8800927 UniProtKB BP, DGA 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 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 4/3/2013 157 3300010271 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G949S; In OI3; moderate. VAR_001894 Y Y ECO:0000006 PubMed:18996919 PubMed:8081394 UniProtKB BP, DGA 4/3/2013 157 3300010273 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G949S; In OI3; moderate. VAR_001894 Y Y ECO:0000006 PubMed:18996919 PubMed:8081394 UniProtKB BP, DGA 4/3/2013 157 3300010275 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G955D; In OI2. VAR_063374 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010277 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G955D; In OI2. VAR_063374 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010279 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G955S; In OI2. VAR_001895 Y Y ECO:0000006 PubMed:2777764 UniProtKB BP, DGA 4/3/2013 157 3300010281 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G955S; In OI2. VAR_001895 Y Y ECO:0000006 PubMed:2777764 UniProtKB BP, DGA 4/3/2013 157 3300010283 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G973V; In OI3. VAR_008120 Y Y ECO:0000006 PubMed:10408781 UniProtKB BP, DGA 4/3/2013 157 3300010285 Rose P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G973V; In OI3. VAR_008120 Y Y ECO:0000006 PubMed:10408781 UniProtKB BP, DGA 4/3/2013 157 3300010287 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G982D; In OI2. VAR_063375 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300010289 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G982D; In OI2. VAR_063375 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 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 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 4/3/2013 157 3300010295 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G991V; In OI3. VAR_063377 Y Y ECO:0000006 PubMed:16879195 UniProtKB BP, DGA 4/3/2013 157 3300010297 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G991V; In OI3. VAR_063377 Y Y ECO:0000006 PubMed:16879195 UniProtKB BP, DGA 4/3/2013 157 3300010299 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G997D; In OI2. VAR_001896 Y Y ECO:0000006 PubMed:2914942 UniProtKB BP, DGA 4/3/2013 157 3300010301 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G997D; In OI2. VAR_001896 Y Y ECO:0000006 PubMed:2914942 UniProtKB BP, DGA 4/3/2013 157 3300010303 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1003D; In OI2. VAR_063378 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300010305 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1003D; In OI2. VAR_063378 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 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:0000006 PubMed:16705691 PubMed:8094076 UniProtKB BP, DGA 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:0000006 PubMed:16705691 PubMed:8094076 UniProtKB BP, DGA 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:0000006 PubMed:16705691 PubMed:8094076 UniProtKB BP, DGA 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:0000006 PubMed:16705691 PubMed:8094076 UniProtKB BP, DGA 4/3/2013 157 3300010315 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1027E; In OI2. VAR_063379 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010317 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1027E; In OI2. VAR_063379 Y Y ECO:0000006 PubMed:18996919 UniProtKB BP, DGA 4/3/2013 157 3300010319 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 1058-1062; In OI2. VAR_063380 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010321 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 1058-1062; In OI2. VAR_063380 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010323 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1066D; In OI2. VAR_001899 Y Y UniProtKB BP, DGA 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 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 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 4/3/2013 157 3300010331 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1087D; In OI3. VAR_063381 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300010333 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1087D; In OI3. VAR_063381 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300010335 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 1094-1096; In OI4. VAR_063382 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010337 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant 1094-1096; In OI4. VAR_063382 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010339 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1096A; In OI3. VAR_001901 Y Y ECO:0000006 PubMed:7749416 UniProtKB BP, DGA 4/3/2013 157 3300010341 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1096A; In OI3. VAR_001901 Y Y ECO:0000006 PubMed:7749416 UniProtKB BP, DGA 4/3/2013 157 3300010343 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant P1101L; VAR_001903 Y Y UniProtKB BP, DGA 4/3/2013 157 3300010345 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1102R; In OI4. VAR_001902 Y Y ECO:0000006 PubMed:2897363 UniProtKB BP, DGA 4/3/2013 157 3300010346 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant G1102R; In OI4. VAR_001902 Y Y ECO:0000006 PubMed:2897363 UniProtKB BP, DGA 4/3/2013 157 3300010348 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant A1119T; 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:0000006 PubMed:21344539 UniProtKB BP, DGA 4/3/2013 157 3300010350 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant C1195Y; In OI1. VAR_063383 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 4/3/2013 157 3300010352 Faith P08123 1278 COL1A2 Homo sapiens 9606 Feature/sequence variant C1195Y; In OI1. VAR_063383 Y Y ECO:0000006 PubMed:16786509 UniProtKB BP, DGA 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:0000006 PubMed:12386153 UniProtKB BP, DGA, AAE 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:0000006 PubMed:11076943 PubMed:11551873 PubMed:14694062 UniProtKB BP, DGA, AAE 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 UniProtKB BP, DGA, AAE 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 UniProtKB BP, DGA, AAE 4/3/2013 172 3300010359 Faith P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P22966-1;Isoform Testis-specific;ACE-T;Position 1-574:Missing;In isoform Testis-specific. VSP_035120 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300010360 Faith P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P22966-1;Isoform Testis-specific;ACE-T;Position 1-574:Missing;In isoform Testis-specific. VSP_035120 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300010362 Faith P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P22966-1;Isoform Testis-specific;ACE-T;Position 1-574:Missing;In isoform Testis-specific. VSP_035120 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300010364 Faith P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P22966-1;Isoform Testis-specific;ACE-T;Position 575-641:AGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID->MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN;In isoform Testis-specific. VSP_035121 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300010366 Faith P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P22966-1;Isoform Testis-specific;ACE-T;Position 575-641:AGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID->MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN;In isoform Testis-specific. VSP_035121 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300010368 Faith P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P22966-1;Isoform Testis-specific;ACE-T;Position 575-641:AGSSRPWQEVLKDMVGLDALDAQPLLKYFQPVTQWLQEQNQQNGEVLGWPEYQWHPPLPDNYPEGID->MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN;In isoform Testis-specific. VSP_035121 Y Y ECO:0000006 PubMed:10969042 PubMed:10924499 PubMed:12459472 PubMed:15671045 UniProtKB BP, DGA, AAE 4/3/2013 172 3300010370 Faith P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P12821-4;Isoform 4;Position 1-67:MGAASGRRGPGLLLPLPLLLLLPPQPALALDPGLQPGNFSADEAGAQLFAQSYNSSAEQVLFQSVAA->MGQGWATAGLPSLLFLLLCYGHPLLVPSQEASQQVTVTHGTSSQATTSSQTTTHQATAHQTSAQSPN;In isoform 4. VSP_043522 Y Y UniProtKB BP, DGA, AAE 4/3/2013 172 3300010372 Faith P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P12821-4;Isoform 4;Position 68-642:Missing;In isoform 4. VSP_043523 Y Y UniProtKB BP, DGA, AAE 4/3/2013 172 3300010373 Faith P12821 1636 ACE Homo sapiens 9606 Feature/splice variant P12821-4;Isoform 4;Position 1128-1168:Missing;In isoform 4. VSP_043524 Y Y UniProtKB BP, DGA, AAE 4/3/2013 172 3300010374 Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant Y127C; In WS4B. VAR_015238 Y Y ECO:0000006 PubMed:12189494 UniProtKB BP 4/3/2013 142 3300010375 Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant Y127C; In WS4B. VAR_015238 Y Y ECO:0000006 PubMed:12189494 UniProtKB BP 4/3/2013 142 3300010377 Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant C159F; In WS4B. VAR_002353 Y Y ECO:0000006 PubMed:8630503 UniProtKB BP 4/3/2013 142 3300010379 Faith P14138 1908 EDN3 Homo sapiens 9606 Feature/sequence variant C159F; In WS4B. VAR_002353 Y Y ECO:0000006 PubMed:8630503 UniProtKB BP 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 UniProtKB BP 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 UniProtKB BP 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:0000006 PubMed:11559807 UniProtKB BP, DGA 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:0000006 PubMed:11559807 UniProtKB BP, DGA 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:0000006 PubMed:11559807 UniProtKB BP, DGA 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:0000006 PubMed:11559807 UniProtKB BP, DGA 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:0000006 PubMed:11559807 UniProtKB BP, DGA 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:0000006 PubMed:11559807 UniProtKB BP, DGA 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 4/3/2013 159 3300010397 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 4/3/2013 159 3300010399 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 4/3/2013 159 3300010401 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 4/3/2013 159 3300010403 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 4/3/2013 159 3300010405 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 4/3/2013 159 3300010407 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/mutagenesis site N818E; Very low receptor activity and HCoV-229E infection. Y Y ECO:0000006 PubMed:11559807 UniProtKB BP, DGA 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:0000006 PubMed:11559807 UniProtKB BP, DGA 4/3/2013 159 3300010411 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/sequence variant D242Y; VAR_006727 Y Y ECO:0000006 PubMed:9452074 UniProtKB BP, DGA 4/3/2013 159 3300010413 Faith P15144 290 ANPEP Homo sapiens 9606 Feature/sequence variant L243P; VAR_006728 Y Y ECO:0000006 PubMed:9452074 UniProtKB BP, DGA 4/3/2013 159 3300010414 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant P42S; In AH4; non-classic. VAR_001260 Y Y ECO:0000006 PubMed:9302260 UniProtKB BP, DGA 4/3/2013 148 3300010415 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant P42S; In AH4; non-classic. VAR_001260 Y Y ECO:0000006 PubMed:9302260 UniProtKB BP, DGA 4/3/2013 148 3300010417 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant P94L; In AH4. VAR_065666 Y Y ECO:0000006 PubMed:16046588 UniProtKB BP, DGA 4/3/2013 148 3300010419 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant P94L; In AH4. VAR_065666 Y Y ECO:0000006 PubMed:16046588 UniProtKB BP, DGA 4/3/2013 148 3300010421 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant N133H; In AH4; non-classic. VAR_001261 Y Y ECO:0000006 PubMed:9302260 UniProtKB BP, DGA 4/3/2013 148 3300010423 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant N133H; In AH4; non-classic. VAR_001261 Y Y ECO:0000006 PubMed:9302260 UniProtKB BP, DGA 4/3/2013 148 3300010425 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T318M; In AH4. VAR_001262 Y Y UniProtKB BP, DGA 4/3/2013 148 3300010427 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T318M; In AH4. VAR_001262 Y Y UniProtKB BP, DGA 4/3/2013 148 3300010429 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T318R; In AH4. VAR_065667 Y Y ECO:0000006 PubMed:16046588 UniProtKB BP, DGA 4/3/2013 148 3300010431 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T318R; In AH4. VAR_065667 Y Y ECO:0000006 PubMed:16046588 UniProtKB BP, DGA 4/3/2013 148 3300010433 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T319M; In AH4; non-classic. VAR_001263 Y Y ECO:0000006 PubMed:9302260 UniProtKB BP, DGA 4/3/2013 148 3300010435 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant T319M; In AH4; non-classic. VAR_001263 Y Y ECO:0000006 PubMed:9302260 UniProtKB BP, DGA 4/3/2013 148 3300010437 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R374Q; In AH4. VAR_001264 Y Y UniProtKB BP, DGA 4/3/2013 148 3300010439 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R374Q; In AH4. VAR_001264 Y Y UniProtKB BP, DGA 4/3/2013 148 3300010441 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant G379V; In AH4. VAR_065196 Y Y ECO:0000006 PubMed:20331679 UniProtKB BP, DGA 4/3/2013 148 3300010443 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant G379V; In AH4. VAR_065196 Y Y ECO:0000006 PubMed:20331679 UniProtKB BP, DGA 4/3/2013 148 3300010445 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R454C; In AH4. VAR_065197 Y Y ECO:0000006 PubMed:20947076 UniProtKB BP, DGA 4/3/2013 148 3300010447 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant R454C; In AH4. VAR_065197 Y Y ECO:0000006 PubMed:20947076 UniProtKB BP, DGA 4/3/2013 148 3300010449 Rose P15538 1584 CYP11B1 Homo sapiens 9606 Feature/sequence variant F494C; VAR_008687 Y Y ECO:0000006 PubMed:2592361 PubMed:10599751 UniProtKB BP, DGA 4/3/2013 148 3300010451 Faith P15538 1584 CYP11B1 Homo sapiens 9606 Feature/splice variant P15538-2;Isoform 2;Position 401-466:Missing;In isoform 2. VSP_043308 Y Y UniProtKB BP, DGA 4/3/2013 148 3300010452 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant L8P; In HHT1. VAR_026774 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 147 3300010486 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant V49F; In HHT1. VAR_026775 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 147 3300010488 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant G52V; In HHT1. VAR_005193 Y Y ECO:0000006 PubMed:9554745 PubMed:10545596 UniProtKB BP, DGA 4/3/2013 147 3300010490 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant C53R; In HHT1. VAR_005194 Y Y ECO:0000006 PubMed:9554745 PubMed:10545596 PubMed:10625079 UniProtKB BP, DGA 4/3/2013 147 3300010492 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant L107R; In HHT1. VAR_026776 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 147 3300010494 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant W149C; In HHT1. VAR_005195 Y Y ECO:0000006 PubMed:9554745 PubMed:10545596 UniProtKB BP, DGA 4/3/2013 147 3300010496 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant A160D; In HHT1. VAR_009120 Y Y ECO:0000006 PubMed:9157574 UniProtKB BP, DGA 4/3/2013 147 3300010498 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant 192-198; In HHT1. VAR_005196 Y Y UniProtKB BP, DGA 4/3/2013 147 3300010500 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant 207; In HHT1. VAR_026777 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 147 3300010502 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant L221P; In HHT1. VAR_009121 Y Y ECO:0000006 PubMed:10545596 PubMed:15712270 UniProtKB BP, DGA 4/3/2013 147 3300010504 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant 232-233; In HHT1. VAR_026778 Y Y UniProtKB BP, DGA 4/3/2013 147 3300010506 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant I263T; In HHT1. VAR_026780 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 147 3300010508 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant 263; In HHT1. VAR_026779 Y Y ECO:0000006 PubMed:15024723 PubMed:15712270 UniProtKB BP, DGA 4/3/2013 147 3300010510 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant L306P; In HHT1. VAR_005197 Y Y ECO:0000006 PubMed:9554745 UniProtKB BP, DGA 4/3/2013 147 3300010512 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant C412S; In HHT1. VAR_026781 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 147 3300010514 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant G413V; In HHT1. VAR_037140 Y Y ECO:0000006 PubMed:10982033 UniProtKB BP, DGA 4/3/2013 147 3300010516 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant V504M; In HHT1. VAR_026782 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 147 3300010518 Mike P17813 2022 ENG Homo sapiens 9606 Feature/sequence variant S615L; In HHT1. VAR_026783 Y Y ECO:0000006 PubMed:15712270 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 BP, DGA 4/3/2013 148 3300010523 Faith P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant T185I; In CMO-2 deficiency. VAR_018471 Y Y ECO:0000006 PubMed:9625333 PubMed:12788848 UniProtKB BP, DGA 4/3/2013 148 3300010525 Faith P19099 1585 CYP11B2 Homo sapiens 9606 Feature/sequence variant E198D; In CMO-2 deficiency. VAR_001268 Y Y ECO:0000006 PubMed:9814506 UniProtKB BP, DGA 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:0000006 PubMed:9177280 UniProtKB BP, DGA 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:0000006 PubMed:12788848 UniProtKB BP, DGA 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:0000006 PubMed:9261180 UniProtKB BP, DGA 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:0000006 PubMed:9261180 UniProtKB BP, DGA 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:0000006 PubMed:9261180 UniProtKB BP, DGA 4/3/2013 155 3300010535 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant A183G; In WS4A. VAR_003470 Y Y ECO:0000006 PubMed:8634719 UniProtKB BP, DGA 4/3/2013 155 3300010536 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant W276C; In HSCR2. VAR_003471 Y Y ECO:0000006 PubMed:8001158 UniProtKB BP, DGA 4/3/2013 155 3300010538 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant F292L; In WS4A. VAR_015294 Y Y ECO:0000006 PubMed:12189494 UniProtKB BP, DGA 4/3/2013 155 3300010540 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant R319W; In HSCR2; sporadic. VAR_003473 Y Y ECO:0000006 PubMed:8852660 PubMed:11471546 UniProtKB BP, DGA 4/3/2013 155 3300010542 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant M374I; In HSCR2. VAR_003474 Y Y ECO:0000006 PubMed:8630503 UniProtKB BP, DGA 4/3/2013 155 3300010544 Faith P24530 1910 EDNRB Homo sapiens 9606 Feature/sequence variant P383L; In HSCR2; familial. VAR_003475 Y Y ECO:0000006 PubMed:8852660 PubMed:11471546 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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:0000006 PubMed:16959974 UniProtKB BP, DGA 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:0000006 PubMed:16959974 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB 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 UniProtKB 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:0000006 PubMed:20213743 UniProtKB BP, DGA 4/3/2013 162 3300010562 Mike P29474 4846 NOS3 Homo sapiens 9606 Feature/sequence variant R474C; In a colorectal cancer sample; somatic mutation. VAR_036303 Y Y ECO:0000006 PubMed:16959974 UniProtKB BP, DGA 4/3/2013 162 3300010563 Mike P29474 4846 NOS3 Homo sapiens 9606 Feature/sequence variant R602Q; In a colorectal cancer sample; somatic mutation. VAR_036304 Y Y ECO:0000006 PubMed:16959974 UniProtKB BP, DGA 4/3/2013 162 3300010565 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 4/3/2013 148 3300010604 Faith P30556 185 AGTR1 Homo sapiens 9606 Feature/sequence variant T282M; In RTD. VAR_035086 Y Y ECO:0000006 PubMed:16116425 UniProtKB BP, DGA 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 4/3/2013 145 3300010607 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant L71Q; In DYT5. VAR_016888 Y Y ECO:0000006 PubMed:9778264 UniProtKB BP, DGA 4/3/2013 145 3300010608 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant A74V; In DYT5. VAR_016889 Y Y ECO:0000006 PubMed:9778264 UniProtKB BP, DGA 4/3/2013 145 3300010610 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant L79P; In DYT5. VAR_002634 Y Y ECO:0000006 PubMed:7501255 UniProtKB BP, DGA 4/3/2013 145 3300010612 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant G83A; In DYT5. VAR_016890 Y Y ECO:0000006 PubMed:9778264 PubMed:10825351 UniProtKB BP, DGA 4/3/2013 145 3300010614 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant 88-89; In DYT5. VAR_016891 Y Y UniProtKB BP, DGA 4/3/2013 145 3300010616 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant R88P; In DYT5. VAR_002635 Y Y ECO:0000006 PubMed:8852666 UniProtKB BP, DGA 4/3/2013 145 3300010618 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant R88W; In DYT5. VAR_002636 Y Y ECO:0000006 PubMed:7874165 UniProtKB BP, DGA 4/3/2013 145 3300010620 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant G90V; In DYT5. VAR_016892 Y Y ECO:0000006 PubMed:10076897 UniProtKB BP, DGA 4/3/2013 145 3300010622 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant M102K; In DYT5. VAR_002637 Y Y ECO:0000006 PubMed:10582612 UniProtKB BP, DGA 4/3/2013 145 3300010624 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant M102R; In DYT5. VAR_016893 Y Y ECO:0000006 PubMed:10582612 UniProtKB BP, DGA 4/3/2013 145 3300010626 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant T106I; In DYT5. VAR_054112 Y Y ECO:0000006 PubMed:17101830 UniProtKB BP, DGA 4/3/2013 145 3300010628 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant G108D; In GCH1D; phenotype presenting with dystonia and motor delay. VAR_016894 Y Y ECO:0000006 PubMed:9667588 UniProtKB BP, DGA 4/3/2013 145 3300010630 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant D115N; In DYT5. VAR_016895 Y Y ECO:0000006 PubMed:9328244 UniProtKB BP, DGA 4/3/2013 145 3300010632 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant D134V; In DYT5. VAR_002638 Y Y ECO:0000006 PubMed:7874165 UniProtKB BP, DGA 4/3/2013 145 3300010634 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant I135K; In DYT5. VAR_016896 Y Y ECO:0000006 PubMed:10208576 UniProtKB BP, DGA 4/3/2013 145 3300010636 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant C141R; In DYT5. VAR_016897 Y Y ECO:0000006 PubMed:10582612 UniProtKB BP, DGA 4/3/2013 145 3300010638 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant C141W; In DYT5. VAR_002639 Y Y ECO:0000006 PubMed:10582612 UniProtKB BP, DGA 4/3/2013 145 3300010640 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant H144P; In DYT5. VAR_002640 Y Y ECO:0000006 PubMed:8957022 UniProtKB BP, DGA 4/3/2013 145 3300010642 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant H153P; In DYT5. VAR_002641 Y Y ECO:0000006 PubMed:8852666 UniProtKB BP, DGA 4/3/2013 145 3300010644 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant L163R; In DYT5. VAR_016898 Y Y ECO:0000006 PubMed:11113234 UniProtKB BP, DGA 4/3/2013 145 3300010646 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant S176T; In DYT5. VAR_016899 Y Y ECO:0000006 PubMed:10582612 UniProtKB BP, DGA 4/3/2013 145 3300010648 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant R178S; In DYT5. VAR_002642 Y Y ECO:0000006 PubMed:9120469 PubMed:10582612 PubMed:10825351 UniProtKB BP, DGA 4/3/2013 145 3300010650 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant Q180R; In DYT5. VAR_016900 Y Y ECO:0000006 PubMed:10825351 UniProtKB BP, DGA 4/3/2013 145 3300010652 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant R184H; In GCH1D; severe hyperphenylalaninemia. VAR_002643 Y Y ECO:0000006 PubMed:7501255 UniProtKB BP, DGA 4/3/2013 145 3300010654 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant T186K; In DYT5. VAR_002644 Y Y ECO:0000006 PubMed:10582612 UniProtKB BP, DGA 4/3/2013 145 3300010656 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant V191I; In DYT5. VAR_016901 Y Y ECO:0000006 PubMed:9778264 UniProtKB BP, DGA 4/3/2013 145 3300010658 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant P199L; In DYT5. VAR_016902 Y Y ECO:0000006 PubMed:10825351 UniProtKB BP, DGA 4/3/2013 145 3300010660 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant G201E; In DYT5. VAR_002645 Y Y ECO:0000006 PubMed:7874165 PubMed:10825351 UniProtKB BP, DGA 4/3/2013 145 3300010662 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant G203R; In DYT5. VAR_002646 Y Y ECO:0000006 PubMed:8852666 UniProtKB BP, DGA 4/3/2013 145 3300010664 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant M211I; In GCH1D; severe hyperphenylalaninemia. VAR_002647 Y Y ECO:0000006 PubMed:7501255 UniProtKB BP, DGA 4/3/2013 145 3300010666 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant M211V; In DYT5. VAR_016903 Y Y ECO:0000006 PubMed:9778264 UniProtKB BP, DGA 4/3/2013 145 3300010668 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant M213V; In DYT5. VAR_016904 Y Y ECO:0000006 PubMed:11113234 UniProtKB BP, DGA 4/3/2013 145 3300010670 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant M221T; In GCH1D; a patient presenting with dystonia and motor delay; compound heterozygote for an additional deletion. VAR_016905 Y Y ECO:0000006 PubMed:9667588 UniProtKB BP, DGA 4/3/2013 145 3300010672 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant F234S; In DYT5. VAR_002649 Y Y ECO:0000006 PubMed:8852666 UniProtKB BP, DGA 4/3/2013 145 3300010674 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant R241W; In DYT5. VAR_016906 Y Y ECO:0000006 PubMed:9778264 UniProtKB BP, DGA 4/3/2013 145 3300010676 Mike P30793 2643 GCH1 Homo sapiens 9606 Feature/sequence variant R249S; In DYT5. VAR_016907 Y Y ECO:0000006 PubMed:10987649 UniProtKB BP, DGA 4/3/2013 145 3300010678 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 4/3/2013 145 3300010684 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A43V; In CPS1D. VAR_066171 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010685 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G58D; In CPS1D. VAR_066172 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010687 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S65F; In CPS1D. VAR_066173 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010689 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V71G; In CPS1D. VAR_066174 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010691 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G79E; In CPS1D. VAR_063560 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010693 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant P87S; In CPS1D. VAR_066175 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010695 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y89D; In CPS1D. VAR_066176 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 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:0000006 PubMed:20578160 UniProtKB BP, DGA 4/3/2013 155 3300010699 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D165G; In CPS1D. VAR_066177 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010701 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y212N; In CPS1D. VAR_063561 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010703 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D224V; In CPS1D. VAR_066178 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010705 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R233C; In CPS1D. VAR_066179 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010707 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant H243P; In CPS1D. VAR_066180 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010709 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G258E; In CPS1D. VAR_066181 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010711 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G263E; In CPS1D. VAR_066182 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010713 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant K280N; In CPS1D. VAR_063562 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010715 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G301E; In CPS1D. VAR_066104 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 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:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010719 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G317E; In CPS1D. VAR_066184 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010721 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D358H; In CPS1D. VAR_066185 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010723 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant P382L; In CPS1D. VAR_066186 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010725 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y389C; In CPS1D. VAR_066105 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010727 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant L390R; In CPS1D. VAR_066106 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010729 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G401R; In CPS1D. VAR_066187 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010731 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G431R; In CPS1D. VAR_066188 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010733 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G432V; In CPS1D. VAR_066189 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010735 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A438P; In CPS1D. VAR_063563 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010737 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A438T; In CPS1D. VAR_066190 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010739 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant K450E; In CPS1D. VAR_066191 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010741 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V457G; In CPS1D. VAR_017562 Y Y ECO:0000006 PubMed:12955727 UniProtKB BP, DGA 4/3/2013 155 3300010743 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T471N; In CPS1D. VAR_064063 Y Y ECO:0000006 PubMed:20578160 UniProtKB BP, DGA 4/3/2013 155 3300010745 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A498P; In CPS1D. VAR_066192 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010747 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V531E; In CPS1D. VAR_066193 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010749 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V531G; In CPS1D. VAR_066194 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010751 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T544M; In CPS1D. VAR_006835 Y Y ECO:0000006 PubMed:9711878 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010753 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R587C; In CPS1D. VAR_066195 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010755 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R587H; In CPS1D. VAR_063564 Y Y ECO:0000006 PubMed:17310273 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010757 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R587L; In CPS1D. VAR_066196 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010759 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A589T; In CPS1D. VAR_066142 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010761 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G593R; In CPS1D. VAR_063565 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010763 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S597L; In CPS1D. VAR_066197 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010765 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V622M; In CPS1D. VAR_066198 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010767 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G628D; In CPS1D. VAR_066199 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010769 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant I632R; In CPS1D. VAR_066200 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010771 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R638P; In CPS1D. VAR_066201 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010773 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A640S; In CPS1D. VAR_066143 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010775 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant C648Y; In CPS1D. VAR_066202 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010777 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant E651K; In CPS1D. VAR_063566 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010779 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D654V; In CPS1D. VAR_066203 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010781 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N674I; In CPS1D. VAR_063567 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010783 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N674K; In CPS1D. VAR_066204 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 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:0000006 PubMed:20578160 UniProtKB BP, DGA 4/3/2013 155 3300010787 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N698S; In CPS1D. VAR_066205 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010789 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N716K; In CPS1D. VAR_066144 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010791 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R718K; In CPS1D. VAR_066107 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010793 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R721Q; In CPS1D. VAR_066108 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010795 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A724P; In CPS1D. VAR_066109 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010797 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A726T; In CPS1D. VAR_066110 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010799 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D767V; In CPS1D. VAR_066111 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 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:0000006 PubMed:20578160 UniProtKB BP, DGA 4/3/2013 155 3300010803 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R780H; In CPS1D. VAR_063568 Y Y ECO:0000006 PubMed:17310273 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010805 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant M792I; In CPS1D. VAR_066112 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010807 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R803C; In CPS1D. VAR_066145 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010809 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R803G; In CPS1D. VAR_066146 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010811 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R803S; In CPS1D. VAR_066147 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010813 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant F805L; In CPS1D. VAR_066148 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010815 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant F805S; In CPS1D. VAR_066149 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010817 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Q810R; In CPS1D. VAR_017563 Y Y ECO:0000006 PubMed:12955727 UniProtKB BP, DGA 4/3/2013 155 3300010819 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R814W; In CPS1D. VAR_066150 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010821 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant C816R; In CPS1D. VAR_066151 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010823 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant L843S; In CPS1D. VAR_017564 Y Y ECO:0000006 PubMed:12655559 PubMed:15164414 UniProtKB BP, DGA 4/3/2013 155 3300010825 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R850C; In CPS1D. VAR_063569 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010827 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R850H; In CPS1D. VAR_030675 Y Y ECO:0000006 PubMed:15617192 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010829 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant K875E; In CPS1D. VAR_017565 Y Y ECO:0000006 PubMed:12655559 PubMed:15164414 UniProtKB BP, DGA 4/3/2013 155 3300010831 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G911E; In CPS1D. VAR_066152 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010833 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G911V; In CPS1D. VAR_066153 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010835 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S913L; In CPS1D. VAR_066154 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010837 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D914G; In CPS1D. VAR_066155 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010839 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D914H; In CPS1D. VAR_066156 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010841 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S918P; In CPS1D. VAR_030676 Y Y ECO:0000006 PubMed:15617192 UniProtKB BP, DGA 4/3/2013 155 3300010843 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R932T; In CPS1D. VAR_066157 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010845 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A949T; In CPS1D. VAR_066158 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010847 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant L958P; In CPS1D. VAR_066159 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010849 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y959C; In CPS1D. VAR_066160 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010851 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y962C; In CPS1D. VAR_066161 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010853 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V978E; In CPS1D. VAR_066113 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010855 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G982D; In CPS1D. VAR_063570 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010857 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G982S; In CPS1D. VAR_066162 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010859 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G982V; In CPS1D. VAR_066114 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010861 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Y984H; In CPS1D. VAR_066115 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 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:0000006 PubMed:21120950 UniProtKB BP, DGA 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:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010867 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant F992S; In CPS1D. VAR_066118 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010869 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S998F; In CPS1D. VAR_066163 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010871 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N1016S; In CPS1D. VAR_066119 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010873 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant P1017L; In CPS1D. VAR_066120 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010875 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T1022I; In CPS1D. VAR_066121 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010877 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant E1034G; In CPS1D. VAR_066122 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010879 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant H1045R; In CPS1D. VAR_066123 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010881 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant I1054R; In CPS1D. VAR_066164 Y Y ECO:0000006 PubMed:11388595 UniProtKB BP, DGA 4/3/2013 155 3300010883 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Q1059R; In CPS1D. VAR_066124 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010885 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A1065E; In CPS1D. VAR_066125 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010887 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1089C; In CPS1D. VAR_066126 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010889 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1089L; In CPS1D. VAR_066165 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010891 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant Q1103R; In CPS1D. VAR_063571 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010893 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant V1141G; In CPS1D. VAR_063572 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010895 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A1155E; In CPS1D. VAR_066127 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010897 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A1155V; In CPS1D. VAR_066128 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010899 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant H1195P; In CPS1D. VAR_063573 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010901 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S1203L; In CPS1D. VAR_066129 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010903 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S1203P; In CPS1D. VAR_066166 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010905 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D1205N; In CPS1D. VAR_066167 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010907 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant I1215V; In CPS1D. VAR_063574 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010909 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1228Q; In CPS1D. VAR_066130 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010911 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant N1241K; In CPS1D. VAR_063575 Y Y ECO:0000006 PubMed:17310273 UniProtKB BP, DGA 4/3/2013 155 3300010913 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant E1255D; In CPS1D. VAR_066131 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010915 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1262P; In CPS1D. VAR_066132 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010917 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1262Q; In CPS1D. VAR_066133 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010919 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant D1274H; In CPS1D. VAR_066134 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010921 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant C1327R; In CPS1D. VAR_066135 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010923 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant S1331P; In CPS1D. VAR_066168 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010925 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G1333E; In CPS1D. VAR_066136 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010927 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1371L; In CPS1D. VAR_066137 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010929 Rose P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant G1376S; Polymorphism with no functional consequences. VAR_017568 Y Y ECO:0000006 PubMed:20578160 PubMed:12853138 UniProtKB BP, DGA 4/3/2013 155 3300010931 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant A1378T; In CPS1D. VAR_066169 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010932 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T1391M; In CPS1D. VAR_066138 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010934 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant L1398V; In CPS1D. VAR_066139 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 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:0000006 PubMed:16737834 PubMed:20578160 UniProtKB BP, DGA 4/3/2013 155 3300010938 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant P1439L; In CPS1D. VAR_066140 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010940 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant T1443A; In CPS1D. VAR_066170 Y Y ECO:0000006 PubMed:16737834 UniProtKB BP, DGA 4/3/2013 155 3300010942 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant R1453Q; In CPS1D; the enzyme is inactive. VAR_064067 Y Y ECO:0000006 PubMed:20578160 UniProtKB BP, DGA 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:0000006 PubMed:20578160 PubMed:21120950 UniProtKB BP, DGA 4/3/2013 155 3300010946 Faith P31327 1373 CPS1 Homo sapiens 9606 Feature/sequence variant P1462R; In CPS1D. VAR_066141 Y Y ECO:0000006 PubMed:21120950 UniProtKB BP, DGA 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:0000006 PubMed:20578160 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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:0000006 PubMed:19713527 UniProtKB BP, DGA 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:0000006 PubMed:19713527 PubMed:21775285 PubMed:12176338 UniProtKB BP, DGA 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:0000006 PubMed:19713527 PubMed:21775285 PubMed:12176338 UniProtKB BP, DGA 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:0000006 PubMed:19713527 PubMed:21775285 PubMed:12176338 UniProtKB BP, DGA 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:0000006 PubMed:21775285 UniProtKB BP, DGA 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:0000006 PubMed:21775285 UniProtKB BP, DGA 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:0000006 PubMed:21775285 UniProtKB BP, DGA 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:0000006 PubMed:12176338 UniProtKB BP, DGA 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:0000006 PubMed:12176338 UniProtKB BP, DGA 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:0000006 PubMed:20333297 UniProtKB BP, DGA 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:0000006 PubMed:22629392 UniProtKB BP, DGA 4/3/2013 166 3300010963 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site T305Y; Abolishes phosphorylation at Thr-308. Y Y ECO:0000006 PubMed:22629392 UniProtKB BP, DGA 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:0000006 PubMed:12244301 PubMed:8978681 UniProtKB BP, DGA 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:0000006 PubMed:22629392 UniProtKB BP, DGA 4/3/2013 166 3300010966 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site T312Y; Abolishes phosphorylation at Thr-308. Y Y ECO:0000006 PubMed:22629392 UniProtKB BP, DGA 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:0000006 PubMed:12244301 PubMed:8978681 UniProtKB BP, DGA 4/3/2013 166 3300010968 Faith P31749 207 AKT1 Homo sapiens 9606 Feature/mutagenesis site Y474F; 55% inhibition of activation. Y Y ECO:0000006 PubMed:12149249 UniProtKB BP, DGA 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 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 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 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 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 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:0000006 PubMed:11825621 UniProtKB BP 4/3/2013 137 3300010982 Faith P35270 6697 SPR Homo sapiens 9606 Feature/sequence variant R150G; In DRDSPRD. VAR_058007 Y Y ECO:0000006 PubMed:11443547 PubMed:17159114 UniProtKB BP 4/3/2013 137 3300010983 Faith P35270 6697 SPR Homo sapiens 9606 Feature/sequence variant P163L; In DRDSPRD. VAR_058008 Y Y ECO:0000006 PubMed:16650784 UniProtKB BP 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:0000006 PubMed:22799562 UniProtKB BP, DGA 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 4/3/2013 149 3300010988 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant G48R; In HHT2. VAR_026785 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 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:0000006 PubMed:9245985 PubMed:10767348 PubMed:14684682 UniProtKB BP, DGA 4/3/2013 149 3300010992 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant C51Y; In HHT2. VAR_006205 Y Y ECO:0000006 PubMed:10694922 UniProtKB BP, DGA 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:0000006 PubMed:9245985 PubMed:14684682 UniProtKB BP, DGA 4/3/2013 149 3300010996 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R67W; In HHT2. VAR_026786 Y Y ECO:0000006 PubMed:15712270 UniProtKB BP, DGA 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:0000006 PubMed:10694922 PubMed:14684682 UniProtKB BP, DGA 4/3/2013 149 3300011000 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant N96D; In HHT2. VAR_006208 Y Y ECO:0000006 PubMed:10694922 UniProtKB BP, DGA 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:0000006 PubMed:14684682 UniProtKB BP, DGA 4/3/2013 149 3300011004 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant E215K; In HHT2. VAR_026789 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011006 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant G223R; In HHT2. VAR_026790 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011008 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant K229R; In HHT2. VAR_026791 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011010 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant 232; In HHT2; mutant protein is capable of targeting the cell surface appropriately. VAR_006209 Y Y ECO:0000006 PubMed:8640225 PubMed:10767348 PubMed:14684682 UniProtKB BP, DGA 4/3/2013 149 3300011012 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant 233; In HHT2. VAR_026792 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011014 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant 254; In HHT2; retained in the endoplasmic reticulum. VAR_026793 Y Y ECO:0000006 PubMed:11484689 PubMed:14684682 UniProtKB BP, DGA 4/3/2013 149 3300011016 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant L285F; In HHT2. VAR_026794 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011018 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant A306P; In HHT2. VAR_026795 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011020 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant H314Y; In HHT2. VAR_026796 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011022 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant S333I; In HHT2; retained in the endoplasmic reticulum. VAR_006210 Y Y ECO:0000006 PubMed:9245985 PubMed:10767348 PubMed:14684682 UniProtKB BP, DGA 4/3/2013 149 3300011024 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant L337P; In HHT2. VAR_026797 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011026 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant A347P; In HHT2. VAR_026799 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 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:0000006 PubMed:14684682 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011030 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant M376V; In HHT2. VAR_026801 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 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:0000006 PubMed:14684682 UniProtKB BP, DGA 4/3/2013 149 3300011034 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant E379K; In HHT2. VAR_026803 Y Y ECO:0000006 PubMed:15024723 PubMed:15712270 UniProtKB BP, DGA 4/3/2013 149 3300011036 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant D397G; In HHT2. VAR_026804 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011038 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant E407D; In HHT2. VAR_026807 Y Y ECO:0000006 PubMed:10767348 PubMed:15712270 UniProtKB BP, DGA 4/3/2013 149 3300011040 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R411P; In HHT2. VAR_026808 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011042 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R411W; In HHT2. VAR_026809 Y Y ECO:0000006 PubMed:11484689 PubMed:15024723 PubMed:15712270 UniProtKB BP, DGA 4/3/2013 149 3300011044 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant P424T; In HHT2. VAR_006214 Y Y ECO:0000006 PubMed:9245985 UniProtKB BP, DGA 4/3/2013 149 3300011046 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant F425L; In HHT2. VAR_026810 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011048 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant F425V; In HHT2. VAR_026811 Y Y ECO:0000006 PubMed:15712270 UniProtKB BP, DGA 4/3/2013 149 3300011050 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant 425; In HHT2. VAR_026812 Y Y ECO:0000006 PubMed:15712270 UniProtKB BP, DGA 4/3/2013 149 3300011052 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R479L; In HHT2. VAR_026813 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011054 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant A482V; In HHT2. VAR_026814 Y Y ECO:0000006 PubMed:15024723 UniProtKB BP, DGA 4/3/2013 149 3300011056 Faith P37023 94 ACVRL1 Homo sapiens 9606 Feature/sequence variant R484W; In HHT2. VAR_026815 Y Y ECO:0000006 PubMed:11484689 PubMed:15024723 UniProtKB BP, DGA 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:0000006 PubMed:14684682 UniProtKB BP, DGA 4/3/2013 149 3300011060 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant V318M; In diabetes. VAR_010727 Y Y ECO:0000006 PubMed:10622252 UniProtKB BP, DGA 4/3/2013 184 3300011062 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant F388L; In FPLD3. VAR_022700 Y Y ECO:0000006 PubMed:12453919 UniProtKB BP, DGA 4/3/2013 184 3300011064 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant R425C; In FPLD3. VAR_022701 Y Y ECO:0000006 PubMed:11788685 UniProtKB BP, DGA 4/3/2013 184 3300011066 Mike P37231 5468 PPARG Homo sapiens 9606 Feature/sequence variant P495L; In diabetes. VAR_010728 Y Y ECO:0000006 PubMed:10622252 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 4/3/2013 184 3300011073 Rose P42892 1889 ECE1 Homo sapiens 9606 Feature/mutagenesis site C428S; Abolishes dimerization. Y Y ECO:0000006 PubMed:18992253 UniProtKB DGA, BP 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 UniProtKB DGA, BP 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 UniProtKB DGA, BP 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 UniProtKB DGA, BP 4/3/2013 136 3300011078 Mike P48506 2729 GCLC Homo sapiens 9606 Feature/sequence variant R127C; In HAGGSD. VAR_021110 Y Y ECO:0000006 PubMed:12663448 UniProtKB BP, DGA 4/3/2013 121 3300011079 Mike P48506 2729 GCLC Homo sapiens 9606 Feature/sequence variant P158L; In HAGGSD. VAR_015403 Y Y ECO:0000006 PubMed:10733484 UniProtKB BP, DGA 4/3/2013 121 3300011081 Mike P48506 2729 GCLC Homo sapiens 9606 Feature/sequence variant H370L; In HAGGSD. VAR_013514 Y Y ECO:0000006 PubMed:10515893 UniProtKB BP, DGA 4/3/2013 121 3300011083 Faith P50052 186 AGTR2 Homo sapiens 9606 Feature/sequence variant G21V; In MRX88. VAR_065946 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011085 Faith P50052 186 AGTR2 Homo sapiens 9606 Feature/sequence variant R324Q; In MRX88. VAR_065947 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011087 Faith P50052 186 AGTR2 Homo sapiens 9606 Feature/sequence variant I337V; In MRX88. VAR_065948 Y Y ECO:0000006 PubMed:12089445 UniProtKB BP, DGA, AAE 4/3/2013 119 3300011089 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant G358R; In CMT2M. VAR_068425 Y Y ECO:0000006 PubMed:18560793 UniProtKB BP 4/3/2013 137 3300011091 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E368K; In CNM1. VAR_031962 Y Y ECO:0000006 PubMed:16227997 PubMed:20227276 UniProtKB BP 4/3/2013 137 3300011093 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E368K; In CNM1. VAR_031962 Y Y ECO:0000006 PubMed:16227997 PubMed:20227276 UniProtKB BP 4/3/2013 137 3300011095 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E368Q; In CNM1. VAR_068365 Y Y ECO:0000006 PubMed:17825552 UniProtKB BP 4/3/2013 137 3300011097 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E368Q; In CNM1. VAR_068365 Y Y ECO:0000006 PubMed:17825552 UniProtKB BP 4/3/2013 137 3300011099 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R369Q; In CNM1. VAR_031963 Y Y ECO:0000006 PubMed:16227997 UniProtKB BP 4/3/2013 137 3300011101 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R369Q; In CNM1. VAR_031963 Y Y ECO:0000006 PubMed:16227997 UniProtKB 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:0000006 PubMed:16227997 UniProtKB 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:0000006 PubMed:16227997 UniProtKB 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:0000006 PubMed:16227997 PubMed:19623537 PubMed:20227276 UniProtKB 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:0000006 PubMed:16227997 PubMed:19623537 PubMed:20227276 UniProtKB BP 4/3/2013 137 3300011111 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R522C; In CNM1. VAR_068366 Y Y ECO:0000006 PubMed:22396310 UniProtKB BP 4/3/2013 137 3300011113 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R522C; In CNM1. VAR_068366 Y Y ECO:0000006 PubMed:22396310 UniProtKB BP 4/3/2013 137 3300011115 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R522H; In CNM1. VAR_068367 Y Y ECO:0000006 PubMed:20227276 UniProtKB BP 4/3/2013 137 3300011117 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R522H; In CNM1. VAR_068367 Y Y ECO:0000006 PubMed:20227276 UniProtKB BP 4/3/2013 137 3300011119 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R523G; In CNM1. VAR_068368 Y Y ECO:0000006 PubMed:22396310 UniProtKB BP 4/3/2013 137 3300011121 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant R523G; In CNM1. VAR_068368 Y Y ECO:0000006 PubMed:22396310 UniProtKB BP 4/3/2013 137 3300011123 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant G537C; In CMT2M. VAR_062574 Y Y ECO:0000006 PubMed:17636067 UniProtKB BP 4/3/2013 137 3300011125 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant 555-557; In CMTDIB; may affect binding to vesicles and membranes in favor of binding to microtubules; may affect receptor-mediated endocytosis. VAR_031966 Y Y UniProtKB BP 4/3/2013 137 3300011127 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E560K; In CNM1. VAR_068369 Y Y ECO:0000006 PubMed:19122038 UniProtKB BP 4/3/2013 137 3300011129 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant E560K; In CNM1. VAR_068369 Y Y ECO:0000006 PubMed:19122038 UniProtKB 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:0000006 PubMed:19623537 PubMed:15731758 UniProtKB BP 4/3/2013 137 3300011133 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant L570H; In CMT2M. VAR_062575 Y Y ECO:0000006 PubMed:17636067 UniProtKB BP 4/3/2013 137 3300011135 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant A618D; In CNM1. VAR_068370 Y Y ECO:0000006 PubMed:19932619 UniProtKB BP 4/3/2013 137 3300011137 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant A618D; In CNM1. VAR_068370 Y Y ECO:0000006 PubMed:19932619 UniProtKB 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:0000006 PubMed:17932957 PubMed:20227276 UniProtKB 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:0000006 PubMed:17932957 PubMed:20227276 UniProtKB 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:0000006 PubMed:17932957 PubMed:20227276 UniProtKB 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:0000006 PubMed:17932957 PubMed:20227276 UniProtKB 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:0000006 PubMed:17932957 UniProtKB 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:0000006 PubMed:17932957 UniProtKB 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:0000006 PubMed:19932620 UniProtKB 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:0000006 PubMed:19932620 UniProtKB with cataracts BP 4/3/2013 137 3300011155 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant 625; In CNM1; severe; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. VAR_039044 Y Y ECO:0000006 PubMed:17932957 PubMed:19623537 UniProtKB BP 4/3/2013 137 3300011157 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant 625; In CNM1; severe; COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. VAR_039044 Y Y ECO:0000006 PubMed:17932957 PubMed:19623537 UniProtKB BP 4/3/2013 137 3300011159 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant P627H; In CNM1. VAR_068372 Y Y ECO:0000006 PubMed:20227276 UniProtKB BP 4/3/2013 137 3300011161 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant P627H; In CNM1. VAR_068372 Y Y ECO:0000006 PubMed:20227276 UniProtKB BP 4/3/2013 137 3300011163 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant P627R; In CNM1. VAR_068373 Y Y ECO:0000006 PubMed:22396310 UniProtKB BP 4/3/2013 137 3300011165 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/sequence variant P627R; In CNM1. VAR_068373 Y Y ECO:0000006 PubMed:22396310 UniProtKB 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:0000006 PubMed:19623537 UniProtKB 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:0000006 PubMed:19623537 UniProtKB 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 UniProtKB BP 4/3/2013 137 3300011173 Faith P50570 1785 DNM2 Homo sapiens 9606 Feature/splice variant P50570-3;Isoform 3;Position 407-444:LAFEAIVKKQVVKLKEPCLKCVDLVIQELINTVRQCTS->MAFEAIVKKQIVKLKEPSLKCVDLVVSELATVIKKCAE;In isoform 3. VSP_044280 Y Y UniProtKB BP 4/3/2013 137 3300011174 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 UniProtKB BP 4/3/2013 137 3300011175 Faith Q01970 5331 PLCB3 Homo sapiens 9606 Feature/splice variant Q01970-2;Isoform 2;Position 33-99:Missing;In isoform 2. VSP_046054 Y Y UniProtKB BP 4/3/2013 130 3300011176 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:0000006 PubMed:12368209 UniProtKB BP, DGA 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:0000006 PubMed:12368209 UniProtKB BP, DGA 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 BP, DGA 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:0000006 PubMed:10531334 UniProtKB BP 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:0000006 PubMed:10531334 PubMed:8178819 PubMed:7493990 UniProtKB BP 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:0000006 PubMed:9450907 UniProtKB BP 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:0000006 PubMed:10531334 PubMed:8178819 PubMed:7493990 UniProtKB BP 4/3/2013 138 3300011186 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant L26F; In HPABH4A. VAR_058265 Y Y ECO:0000006 PubMed:11388593 UniProtKB BP 4/3/2013 138 3300011188 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant E35G; In HPABH4A. VAR_006819 Y Y UniProtKB BP 4/3/2013 138 3300011190 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant N36K; In HPABH4A. VAR_006820 Y Y UniProtKB BP 4/3/2013 138 3300011192 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant N47D; In HPABH4A; transient phenotype; due to partial PTS deficiency; total loss of activity. VAR_008040 Y Y ECO:0000006 PubMed:10220141 UniProtKB BP 4/3/2013 138 3300011194 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant N52S; In HPABH4A; severe form; common in Chinese population. VAR_006821 Y Y ECO:0000006 PubMed:8707300 PubMed:9450907 UniProtKB BP 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:0000006 PubMed:9450907 UniProtKB BP 4/3/2013 138 3300011198 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant 57; In HPABH4A. VAR_006823 Y Y ECO:0000006 PubMed:7493990 PubMed:9222757 PubMed:10585341 UniProtKB BP 4/3/2013 138 3300011200 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant T67M; In HPABH4A. VAR_006824 Y Y ECO:0000006 PubMed:9222757 PubMed:11388593 UniProtKB BP 4/3/2013 138 3300011202 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant V70D; In HPABH4A. VAR_006825 Y Y ECO:0000006 PubMed:9450907 UniProtKB BP 4/3/2013 138 3300011204 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant P87L; In HPABH4A. VAR_006826 Y Y ECO:0000006 PubMed:7493990 PubMed:11388593 UniProtKB BP 4/3/2013 138 3300011206 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant P87S; In HPABH4A; severe form; common in Chinese population. VAR_006827 Y Y ECO:0000006 PubMed:8707300 PubMed:9450907 UniProtKB BP 4/3/2013 138 3300011208 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant D96N; In HPABH4A; severe form. VAR_006828 Y Y ECO:0000006 PubMed:9450907 UniProtKB BP 4/3/2013 138 3300011210 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant V97M; In HPABH4A. VAR_058266 Y Y ECO:0000006 PubMed:10585341 UniProtKB BP 4/3/2013 138 3300011212 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant Y99C; In HPABH4A. VAR_058267 Y Y ECO:0000006 PubMed:10874306 UniProtKB BP 4/3/2013 138 3300011214 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant F100V; In HPABH4A. VAR_006829 Y Y UniProtKB BP 4/3/2013 138 3300011216 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant T106M; In HPABH4A. VAR_006830 Y Y ECO:0000006 PubMed:9450907 UniProtKB BP 4/3/2013 138 3300011218 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant I114V; In HPABH4A. VAR_006831 Y Y ECO:0000006 PubMed:7698774 PubMed:9159737 UniProtKB BP 4/3/2013 138 3300011220 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant D116G; In HPABH4A; due to partial PTS deficiency; mild form. VAR_008041 Y Y ECO:0000006 PubMed:10220141 UniProtKB BP 4/3/2013 138 3300011222 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant V124L; In HPABH4A. VAR_058268 Y Y ECO:0000006 PubMed:11388593 UniProtKB BP 4/3/2013 138 3300011224 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant K129E; In HPABH4A. VAR_006832 Y Y ECO:0000006 PubMed:9222757 UniProtKB BP 4/3/2013 138 3300011226 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant D136G; In HPABH4A. VAR_058269 Y Y ECO:0000006 PubMed:11388593 UniProtKB BP 4/3/2013 138 3300011228 Faith Q03393 5805 PTS Homo sapiens 9606 Feature/sequence variant D136V; In HPABH4A. VAR_006833 Y Y ECO:0000006 PubMed:9222757 PubMed:11388593 UniProtKB BP 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:0000006 PubMed:16959974 UniProtKB BP, DGA 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:0000006 PubMed:17344846 UniProtKB 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:0000006 PubMed:11015450 UniProtKB BP, DGA 4/3/2013 148 3300011237 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C60Y; In PPH1. VAR_013670 Y Y ECO:0000006 PubMed:11015450 UniProtKB BP, DGA 4/3/2013 148 3300011239 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant Q82H; In PPH1. VAR_033109 Y Y ECO:0000006 PubMed:12358323 UniProtKB BP, DGA 4/3/2013 148 3300011241 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant Q82H; In PPH1. VAR_033109 Y Y ECO:0000006 PubMed:12358323 UniProtKB BP, DGA 4/3/2013 148 3300011243 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C117Y; In PPH1. VAR_013671 Y Y ECO:0000006 PubMed:11015450 UniProtKB BP, DGA 4/3/2013 148 3300011245 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C117Y; In PPH1. VAR_013671 Y Y ECO:0000006 PubMed:11015450 UniProtKB BP, DGA 4/3/2013 148 3300011247 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C118W; In PPH1. VAR_013672 Y Y ECO:0000006 PubMed:10973254 UniProtKB BP, DGA 4/3/2013 148 3300011249 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C118W; In PPH1. VAR_013672 Y Y ECO:0000006 PubMed:10973254 UniProtKB BP, DGA 4/3/2013 148 3300011251 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C123R; In PPH1. VAR_013673 Y Y ECO:0000006 PubMed:11115378 UniProtKB BP, DGA 4/3/2013 148 3300011253 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C123R; In PPH1. VAR_013673 Y Y ECO:0000006 PubMed:11115378 UniProtKB BP, DGA 4/3/2013 148 3300011255 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C123S; In PPH1. VAR_013674 Y Y ECO:0000006 PubMed:11115378 UniProtKB BP, DGA 4/3/2013 148 3300011257 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C123S; In PPH1. VAR_013674 Y Y ECO:0000006 PubMed:11115378 UniProtKB BP, DGA 4/3/2013 148 3300011259 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant G182D; In PPH1. VAR_033110 Y Y ECO:0000006 PubMed:12358323 UniProtKB BP, DGA 4/3/2013 148 3300011261 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant G182D; In PPH1. VAR_033110 Y Y ECO:0000006 PubMed:12358323 UniProtKB BP, DGA 4/3/2013 148 3300011263 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant E224D; VAR_013675 Y Y ECO:0000006 PubMed:11115378 UniProtKB BP, DGA 4/3/2013 148 3300011265 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C347Y; In PPH1. VAR_013676 Y Y ECO:0000006 PubMed:10973254 UniProtKB BP, DGA 4/3/2013 148 3300011266 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C347Y; In PPH1. VAR_013676 Y Y ECO:0000006 PubMed:10973254 UniProtKB BP, DGA 4/3/2013 148 3300011268 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C420R; In PPH1. VAR_013677 Y Y ECO:0000006 PubMed:11115378 UniProtKB BP, DGA 4/3/2013 148 3300011270 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C420R; In PPH1. VAR_013677 Y Y ECO:0000006 PubMed:11115378 UniProtKB BP, DGA 4/3/2013 148 3300011272 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C483R; In PPH1; sporadic. VAR_013678 Y Y ECO:0000006 PubMed:11015450 PubMed:12358323 UniProtKB BP, DGA 4/3/2013 148 3300011274 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant C483R; In PPH1; sporadic. VAR_013678 Y Y ECO:0000006 PubMed:11015450 PubMed:12358323 UniProtKB BP, DGA 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:0000006 PubMed:10973254 PubMed:11115378 UniProtKB BP, DGA 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:0000006 PubMed:10973254 PubMed:11115378 UniProtKB BP, DGA 4/3/2013 148 3300011280 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant R491Q; In PPH1; sporadic. VAR_013680 Y Y ECO:0000006 PubMed:10903931 UniProtKB BP, DGA 4/3/2013 148 3300011282 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant R491Q; In PPH1; sporadic. VAR_013680 Y Y ECO:0000006 PubMed:10903931 UniProtKB BP, DGA 4/3/2013 148 3300011284 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant R491W; In PPH1. VAR_013681 Y Y ECO:0000006 PubMed:10903931 UniProtKB BP, DGA 4/3/2013 148 3300011286 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant R491W; In PPH1. VAR_013681 Y Y ECO:0000006 PubMed:10903931 UniProtKB BP, DGA 4/3/2013 148 3300011288 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant K512T; In PPH1. VAR_013682 Y Y ECO:0000006 PubMed:11115378 UniProtKB BP, DGA 4/3/2013 148 3300011290 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant K512T; In PPH1. VAR_013682 Y Y ECO:0000006 PubMed:11115378 UniProtKB BP, DGA 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 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 4/3/2013 148 3300011296 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant R899P; In PPH1; leads to constitutive activation of the MAPK14 pathway. VAR_033111 Y Y ECO:0000006 PubMed:15965979 UniProtKB BP, DGA 4/3/2013 148 3300011298 Faith Q13873 659 BMPR2 Homo sapiens 9606 Feature/sequence variant R899P; In PPH1; leads to constitutive activation of the MAPK14 pathway. VAR_033111 Y Y ECO:0000006 PubMed:15965979 UniProtKB BP, DGA 4/3/2013 148 3300011300 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/mutagenesis site T20A; No change in sialylated isoforms. Y Y ECO:0000006 PubMed:19855092 UniProtKB 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:0000006 PubMed:19855092 UniProtKB BP, DGA 4/3/2013 136 3300011303 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/mutagenesis site T22A; Abolishes sialylated isoforms. Y Y ECO:0000006 PubMed:19855092 UniProtKB 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:0000006 PubMed:16497731 UniProtKB 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:0000006 PubMed:12878598 PubMed:16497731 UniProtKB 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:0000006 PubMed:16497731 UniProtKB 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:0000006 PubMed:16497731 UniProtKB 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:0000006 PubMed:16497731 UniProtKB 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:0000006 PubMed:16497731 UniProtKB 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:0000006 PubMed:12878598 PubMed:11812766 PubMed:12354786 UniProtKB BP, DGA 4/3/2013 136 3300011311 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/sequence variant G90S; Does not form high molecular weight multimers. VAR_027395 Y Y ECO:0000006 PubMed:12878598 PubMed:12354786 UniProtKB BP, DGA 4/3/2013 136 3300011312 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:0000006 PubMed:12878598 PubMed:10918532 PubMed:12086969 UniProtKB BP, DGA 4/3/2013 136 3300011313 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/sequence variant V117M; VAR_013275 Y Y ECO:0000006 PubMed:11812766 UniProtKB BP, DGA 4/3/2013 136 3300011315 Faith 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. VAR_013276 Y Y ECO:0000006 PubMed:12878598 PubMed:11812766 PubMed:12086969 UniProtKB BP, DGA 4/3/2013 136 3300011317 Faith 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. VAR_013276 Y Y ECO:0000006 PubMed:12878598 PubMed:11812766 PubMed:12086969 UniProtKB BP, DGA 4/3/2013 136 3300011319 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/sequence variant R221S; VAR_013277 Y Y ECO:0000006 PubMed:11812766 PubMed:12086969 UniProtKB BP, DGA 4/3/2013 136 3300011321 Faith Q15848 9370 ADIPOQ Homo sapiens 9606 Feature/sequence variant H241P; VAR_013278 Y Y ECO:0000006 PubMed:11812766 PubMed:12086969 UniProtKB BP, DGA 4/3/2013 136 3300011322 Faith Q16568 9607 CARTPT Homo sapiens 9606 Feature/sequence variant L61F; Cosegregates with obesity phenotype in a large family. VAR_012199 Y Y ECO:0000006 PubMed:11522684 UniProtKB BP 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:0000006 PubMed:11522684 UniProtKB BP 4/3/2013 113 3300011325 Rose Q16568 9607 CARTPT Homo sapiens 9606 Feature/sequence variant S66T; VAR_012200 Y Y ECO:0000006 PubMed:10905499 UniProtKB BP 4/3/2013 113 3300011327 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 UniProtKB 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 UniProtKB 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 UniProtKB 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 UniProtKB BP, DGA 4/3/2013 114 3300011447 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/sequence variant N638S; VAR_023083 Y Y ECO:0000006 PubMed:15937940 UniProtKB BP, DGA 4/3/2013 114 3300011449 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/splice variant Q9BYF1-2;Isoform 2;Position 555:F->L;In isoform 2. VSP_014901 Y Y UniProtKB BP, DGA 4/3/2013 114 3300011450 Faith Q9BYF1 59272 ACE2 Homo sapiens 9606 Feature/splice variant Q9BYF1-2;Isoform 2;Position 556-805:Missing;In isoform 2. VSP_014902 Y Y UniProtKB BP, DGA 4/3/2013 114 3300011451 Faith Q9UBR2 1522 CTSZ Homo sapiens 9606 Feature/sequence variant P36S; VAR_010254 Y Y ECO:0000006 PubMed:9738465 UniProtKB 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:0000006 PubMed:9738465 UniProtKB 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:0000006 PubMed:21518754 UniProtKB BP, DGA 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:0000006 PubMed:21518754 UniProtKB BP, DGA 4/3/2013 123 3300011455 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R134A; Does not affect autocatalytic cleavage. Y Y ECO:0000006 PubMed:21288900 UniProtKB BP, DGA 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:0000006 PubMed:21288900 UniProtKB BP, DGA 4/3/2013 123 3300011457 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R180A; Does not affect autocatalytic cleavage. Y Y ECO:0000006 PubMed:21288900 UniProtKB BP, DGA 4/3/2013 123 3300011458 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R213A; Does not affect autocatalytic cleavage. Y Y ECO:0000006 PubMed:21288900 UniProtKB BP, DGA 4/3/2013 123 3300011459 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R239A; Does not affect autocatalytic cleavage. Y Y ECO:0000006 PubMed:21288900 UniProtKB BP, DGA 4/3/2013 123 3300011460 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R244A; Does not affect autocatalytic cleavage. Y Y ECO:0000006 PubMed:21288900 UniProtKB BP, DGA 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:0000006 PubMed:21288900 UniProtKB BP, DGA 4/3/2013 123 3300011462 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site R801A; Loss of activity towards NPPA. Y Y ECO:0000006 PubMed:14559895 PubMed:21288900 UniProtKB BP, DGA 4/3/2013 123 3300011463 Rose Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/mutagenesis site S985A; Loss of activity towards NPPA. Y Y ECO:0000006 PubMed:10880574 PubMed:14559895 PubMed:21288900 UniProtKB BP, DGA 4/3/2013 123 3300011464 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/sequence variant K317E; In PEE5. VAR_067795 Y Y ECO:0000006 PubMed:22437503 UniProtKB BP, DGA 4/3/2013 123 3300011465 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/sequence variant K317E; In PEE5. VAR_067795 Y Y ECO:0000006 PubMed:22437503 UniProtKB BP, DGA 4/3/2013 123 3300011467 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/sequence variant S472G; In PEE5. VAR_067797 Y Y ECO:0000006 PubMed:22437503 UniProtKB BP, DGA 4/3/2013 123 3300011469 Faith Q9Y5Q5 10699 CORIN Homo sapiens 9606 Feature/sequence variant S472G; In PEE5. VAR_067797 Y Y ECO:0000006 PubMed:22437503 UniProtKB BP, DGA 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 UniProtKB BP, DGA 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 BP, DGA 4/3/2013 162 3300012045 Mike P37231 5468 PPARG Homo sapiens 9606 Comment/polymorphism Genetic variation in PPARG may influence body mass index (BMI) [MIM:606641]. BMI reflects the amount of fat, lean mass, and body build. Y Y UniProtKB OMIM ID links to a phenotype, not a disease. BP, DGA 4/3/2013 184 3300012148 Mike 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 UniProtKB OMIM ID links to a phenotype, not a disease. BP, DGA 4/3/2013 184 3300012150 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 UniProtKB BP, DGA 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 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 9/3/2014 152 3300033357