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 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 P37288 552 AVPR1A Homo sapiens 9606 Comment/alternative products/isoform P37288-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) DGA, AAE 1100000290 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 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 3553 IL1B Homo sapiens 9606 Comment/alternative products/isoform P01584-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) DGA, AAE 1100000416 curatus P14174 4282 MIF Homo sapiens 9606 Comment/alternative products/isoform P14174-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) DGA, AAE 1100000456 curatus 551 AVP Homo sapiens 9606 Comment/alternative products/isoform P01185-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) DGA, AAE 1100000669 curatus 7097 TLR2 Homo sapiens 9606 Comment/alternative products/isoform O60603-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) DGA, AAE 1100000735 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/alternative products/isoform O14788-1;Isoform 1 Y Y UniProtKB full length DGA, AAE 1100000790 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 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 curatus P16435 5447 POR Homo sapiens 9606 Comment/alternative products/isoform P16435-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAE 5/29/2013 160 1100001115 curatus Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/alternative products/isoform Q13018-1;Isoform 1 Y Y UniProtKB full length AAE 5/29/2013 103 1100001118 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 Q13018 22925 PLA2R1 Homo sapiens 9606 Comment/alternative products/isoform Q13018-2;Isoform 2 VSP_029493 VSP_029494 Y Y UniProtKB AAE 5/29/2013 103 1100001167 curatus 301 ANXA1 Homo sapiens 9606 Comment/alternative products/isoform P04083-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) DGA, AAE 1100001173 curatus P21917 1815 DRD4 Homo sapiens 9606 Comment/alternative products/isoform P21917-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) DGA, AAE 1100001198 curatus P04233 972 CD74 Homo sapiens 9606 Comment/alternative products/isoform P04233-1;Isoform 1;Long Y Y UniProtKB full length DGA, AAE 1100001283 curatus 2205 FCER1A Homo sapiens 9606 Comment/alternative products/isoform P12319-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) DGA, AAE 1100001306 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Comment/alternative products/isoform P19438-1;Isoform 1;FL-TNFR1 Y Y UniProtKB full length DGA, AAE 1100001312 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/alternative products/isoform Q96EB6-1;Isoform 1 Y Y UniProtKB full length DGA, AAE 1100001494 curatus P45984 5601 MAPK9 Homo sapiens 9606 Comment/alternative products/isoform P45984-1;Isoform Alpha-2 Y Y UniProtKB full length DGA, AAE 1100001617 curatus 5020 OXT Homo sapiens 9606 Comment/alternative products/isoform P01178-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) DGA, AAE 1100001765 curatus P14416 1813 DRD2 Homo sapiens 9606 Comment/alternative products/isoform P14416-1;Isoform 1;D2(Long) Y Y UniProtKB full length DGA, AAE 1100001914 curatus P35462 1814 DRD3 Homo sapiens 9606 Comment/alternative products/isoform P35462-1;Isoform 1;D3 Y Y UniProtKB full length AAE 1100002119 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/alternative products/isoform Q9Y6Q6-1;Isoform 1 Y Y UniProtKB full length AAE 1100002120 curatus P43405 6850 SYK Homo sapiens 9606 Comment/alternative products/isoform P43405-1;Isoform Long Y Y UniProtKB full length AAE 1100002121 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/alternative products/isoform Q86YL7-1;Isoform 1;hT1alpha-2 Y Y UniProtKB full length AAE 1100002122 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Comment/alternative products/isoform Q969F8-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAE 1100002123 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/alternative products/isoform Q9NYA1-1;Isoform 1 Y Y UniProtKB full length AAE 1100002124 curatus P08949 4828 NMB Homo sapiens 9606 Comment/alternative products/isoform P08949-1;Isoform 1 Y Y UniProtKB full length AAE 1100002125 curatus P14598 653361 NCF1 Homo sapiens 9606 Comment/alternative products/isoform P14598-1;Isoform 1 Y Y UniProtKB full length AAE 1100002126 curatus P31391 6754 SSTR4 Homo sapiens 9606 Comment/alternative products/isoform P31391-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAE 1100002127 curatus P04233 972 CD74 Homo sapiens 9606 Comment/alternative products/isoform P04233-2;Isoform 2;Short VSP_005331 Y Y UniProtKB DGA, AAE 1100003652 curatus P04233 972 CD74 Homo sapiens 9606 Comment/alternative products/isoform P04233-3;Isoform 3 VSP_037869 VSP_037870 Y Y UniProtKB DGA, AAE 1100003653 curatus P14416 1813 DRD2 Homo sapiens 9606 Comment/alternative products/isoform P14416-2;Isoform 2;D2(Short) VSP_001870 Y Y UniProtKB DGA, AAE 1100003654 curatus P14416 1813 DRD2 Homo sapiens 9606 Comment/alternative products/isoform P14416-3;Isoform 3;D2(Longer) VSP_026455 Y Y UniProtKB DGA, AAE 1100003655 curatus P35462 1814 DRD3 Homo sapiens 9606 Comment/alternative products/isoform P35462-3;Isoform 3 VSP_040570 Y Y UniProtKB AAE 1100003656 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/alternative products/isoform O14788-2;Isoform 2;SODF VSP_006447 Y Y UniProtKB DGA, AAE 1100003657 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Comment/alternative products/isoform O14788-3;Isoform 3 VSP_006446 Y Y UniProtKB DGA, AAE 1100003658 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/alternative products/isoform Q9Y6Q6-2;Isoform 2;delta7,8,9 VSP_046901 Y Y UniProtKB AAE 1100003659 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/alternative products/isoform Q9Y6Q6-3;Isoform 3;delta8,9 VSP_054180 Y Y UniProtKB AAE 1100003660 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/alternative products/isoform Q9Y6Q6-4;Isoform 4;delta9 VSP_054181 VSP_054182 Y Y UniProtKB AAE 1100003661 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/alternative products/isoform Q9Y6Q6-5;Isoform 5;exon9a VSP_054183 Y Y UniProtKB AAE 1100003662 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Comment/alternative products/isoform Q9Y6Q6-6;Isoform RANK-e5a VSP_054179 Reduced abilitity to bind RANKL and to activate NF-kappaB as compared to isoform 1. Y Y UniProtKB AAE 1100003663 curatus P43405 6850 SYK Homo sapiens 9606 Comment/alternative products/isoform P43405-2;Isoform Short VSP_005010 Y Y UniProtKB AAE 1100003665 curatus P45984 5601 MAPK9 Homo sapiens 9606 Comment/alternative products/isoform P45984-2;Isoform Alpha-1 VSP_004835 Y Y UniProtKB DGA, AAE 1100003666 curatus P45984 5601 MAPK9 Homo sapiens 9606 Comment/alternative products/isoform P45984-3;Isoform Beta-1 VSP_004834 VSP_004835 Y Y UniProtKB DGA, AAE 1100003667 curatus P45984 5601 MAPK9 Homo sapiens 9606 Comment/alternative products/isoform P45984-4;Isoform Beta-2 VSP_004834 Y Y UniProtKB DGA, AAE 1100003668 curatus P45984 5601 MAPK9 Homo sapiens 9606 Comment/alternative products/isoform P45984-5;Isoform 5 VSP_041908 VSP_041909 Y Y UniProtKB DGA, AAE 1100003669 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/alternative products/isoform Q86YL7-2;Isoform 2;hT1alpha-1 VSP_051949 VSP_051950 VSP_051951 Y Y UniProtKB AAE 1100003670 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/alternative products/isoform Q86YL7-3;Isoform 3 VSP_035753 Y Y UniProtKB AAE 1100003671 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Comment/alternative products/isoform Q86YL7-4;Isoform 4 VSP_035753 VSP_035754 Y Y UniProtKB AAE 1100003672 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/alternative products/isoform Q9NYA1-2;Isoform 2 VSP_035453 Variant in position: 34:A->T (in dbSNP:rs346803). Y Y UniProtKB AAE 1100003675 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Comment/alternative products/isoform Q9NYA1-3;Isoform 3 VSP_047078 Y Y UniProtKB AAE 1100003676 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Comment/alternative products/isoform P19438-4;Isoform 4;Delta6-TNFR1 VSP_044949 Disease-associated isoform. Isoform 4 splicing pattern is driven by a variation in the exon 6/intron 6 boundary region that alters exon 6 splicing. Exon 6 skipping introduces a frameshift and the translation of a protein lacking the intracellular, the transmembrane and part of the extracellular domain. Y Y UniProtKB DGA, AAE 1100003678 curatus P14598 653361 NCF1 Homo sapiens 9606 Comment/alternative products/isoform P14598-2;Isoform 2 VSP_035032 VSP_035033 Due to intron retention. Y Y UniProtKB AAE 1100003682 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Comment/alternative products/isoform Q96EB6-2;Isoform 2;delta-exon8 VSP_042189 Y Y UniProtKB DGA, AAE 1100003683 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 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant A500V; In dbSNP:rs1057868. VAR_004617 rs1057868 Y Y ECO:0000006 PubMed:15483095 submission: PubMed:15489334 PubMed:1550342 UniProtKB AAE 5/29/2013 160 3300009582 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 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Feature/sequence variant R142Q; In dbSNP:rs12327936. VAR_037203 rs12327936 Y Y UniProtKB AAE 5/29/2013 103 3300009610 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 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 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 Q13018 22925 PLA2R1 Homo sapiens 9606 Feature/sequence variant P177S; In dbSNP:rs13394676. VAR_037204 rs13394676 Y Y UniProtKB AAE 5/29/2013 103 3300009625 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 Q13018 22925 PLA2R1 Homo sapiens 9606 Feature/sequence variant R404H; In dbSNP:rs33985939. VAR_037208 rs33985939 Y Y UniProtKB AAE 5/29/2013 103 3300009697 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Feature/sequence variant A370E; In dbSNP:rs34916310. VAR_061354 rs34916310 Y Y UniProtKB AAE 5/29/2013 103 3300009702 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Feature/sequence variant H300D; In dbSNP:rs35771982. VAR_037207 rs35771982 Y Y ECO:0000006 PubMed:7721806 UniProtKB AAE 5/29/2013 103 3300009706 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 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Feature/sequence variant M292V; In dbSNP:rs3749117. VAR_037206 rs3749117 Y Y ECO:0000006 PubMed:7721806 UniProtKB AAE 5/29/2013 103 3300009715 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Feature/sequence variant G1106S; In dbSNP:rs3828323. VAR_037209 rs3828323 Y Y UniProtKB AAE 5/29/2013 103 3300009716 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 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 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 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 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 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 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Feature/sequence variant I279V; In dbSNP:rs965290. VAR_037205 rs965290 Y Y UniProtKB AAE 5/29/2013 103 3300009813 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 P16435 5447 POR Homo sapiens 9606 Feature/sequence variant Y178D; In DISPORD; complete loss of activity. VAR_021154 Y Y ECO:0000006 PubMed:15220035 UniProtKB AAE 5/29/2013 160 3300010453 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant P225L; VAR_047885 Y Y ECO:0000006 submission: PubMed:15489334 UniProtKB AAE 5/29/2013 160 3300010455 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant D252N; VAR_047886 Y Y ECO:0000006 submission: UniProtKB AAE 5/29/2013 160 3300010456 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant A284P; In ABS1 and DISPORD; significant reduction of activity. VAR_021155 Y Y ECO:0000006 PubMed:14758361 PubMed:15220035 UniProtKB AAE 5/29/2013 160 3300010457 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant A284P; In ABS1 and DISPORD; significant reduction of activity. VAR_021155 Y Y ECO:0000006 PubMed:14758361 PubMed:15220035 UniProtKB AAE 5/29/2013 160 3300010459 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant A284P; In ABS1 and DISPORD; significant reduction of activity. VAR_021155 Y Y ECO:0000006 PubMed:14758361 PubMed:15220035 UniProtKB AAE 5/29/2013 160 3300010461 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant R454H; In ABS1 and DISPORD; significant reduction of activity. VAR_021156 Y Y ECO:0000006 PubMed:15264278 PubMed:15483095 PubMed:14758361 PubMed:15220035 UniProtKB AAE 5/29/2013 160 3300010463 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant R454H; In ABS1 and DISPORD; significant reduction of activity. VAR_021156 Y Y ECO:0000006 PubMed:15264278 PubMed:15483095 PubMed:14758361 PubMed:15220035 UniProtKB AAE 5/29/2013 160 3300010465 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant R454H; In ABS1 and DISPORD; significant reduction of activity. VAR_021156 Y Y ECO:0000006 PubMed:15264278 PubMed:15483095 PubMed:14758361 PubMed:15220035 UniProtKB AAE 5/29/2013 160 3300010467 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant V489E; In ABS1; significant reduction of activity. VAR_021157 Y Y ECO:0000006 PubMed:14758361 UniProtKB AAE 5/29/2013 160 3300010469 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant V489E; In ABS1; significant reduction of activity. VAR_021157 Y Y ECO:0000006 PubMed:14758361 UniProtKB AAE 5/29/2013 160 3300010471 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant R551Q; VAR_004618 Y Y UniProtKB AAE 5/29/2013 160 3300010473 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant C566Y; In DISPORD; significant reduction of activity. VAR_021158 Y Y ECO:0000006 PubMed:14758361 PubMed:15220035 UniProtKB AAE 5/29/2013 160 3300010474 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant Y575C; In ABS1. VAR_021159 Y Y ECO:0000006 PubMed:15483095 UniProtKB AAE 5/29/2013 160 3300010476 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant Y575C; In ABS1. VAR_021159 Y Y ECO:0000006 PubMed:15483095 UniProtKB AAE 5/29/2013 160 3300010478 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant V605F; In DISPORD; significant reduction of activity. VAR_021160 Y Y ECO:0000006 PubMed:14758361 UniProtKB AAE 5/29/2013 160 3300010480 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant LKQDREHLW609-617R; In ABS1. VAR_021161 Y Y UniProtKB AAE 5/29/2013 160 3300010482 Faith P16435 5447 POR Homo sapiens 9606 Feature/sequence variant LKQDREHLW609-617R; In ABS1. VAR_021161 Y Y UniProtKB AAE 5/29/2013 160 3300010484 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 Q13018 22925 PLA2R1 Homo sapiens 9606 Feature/splice variant Q13018-2;Isoform 2;Position 1323-1324:NE->SK;In isoform 2. VSP_029493 Y Y UniProtKB AAE 5/29/2013 103 3300011234 Faith Q13018 22925 PLA2R1 Homo sapiens 9606 Feature/splice variant Q13018-2;Isoform 2;Position 1325-1463:Missing;In isoform 2. VSP_029494 Y Y UniProtKB AAE 5/29/2013 103 3300011235 curatus P14174 4282 MIF Homo sapiens 9606 Feature/mutagenesis site N111C; Causes formation of interchain disulfide bonds with Cys-81 from another subunit. Y Y ECO:0000269 PubMed:23776208 UniProtKB DGA, AAE 9/3/2014 174 3300033317 curatus P04233 972 CD74 Homo sapiens 9606 Feature/splice variant P04233-2;Isoform 2;Short;Position 209-272:Missing;In isoform 2. VSP_005331 Y Y UniProtKB DGA, AAE 9/3/2014 170 3300033318 curatus P04233 972 CD74 Homo sapiens 9606 Feature/splice variant P04233-3;Isoform 3;Position 148-160:NADPLKVYPPLKG->SHWNWRTRLLGWV;In isoform 3. VSP_037869 Y Y UniProtKB DGA, AAE 9/3/2014 170 3300033319 curatus P04233 972 CD74 Homo sapiens 9606 Feature/splice variant P04233-3;Isoform 3;Position 161-296:Missing;In isoform 3. VSP_037870 Y Y UniProtKB DGA, AAE 9/3/2014 170 3300033320 curatus P14416 1813 DRD2 Homo sapiens 9606 Feature/splice variant P14416-2;Isoform 2;D2(Short);Position 242-270:Missing;In isoform 2. VSP_001870 Y Y UniProtKB DGA, AAE 9/3/2014 174 3300033321 curatus P14416 1813 DRD2 Homo sapiens 9606 Feature/splice variant P14416-3;Isoform 3;D2(Longer);Position 270:V->VVQ;In isoform 3. VSP_026455 Y Y UniProtKB DGA, AAE 9/3/2014 174 3300033322 curatus P14416 1813 DRD2 Homo sapiens 9606 Feature/sequence variant V154I; In DYT11; uncertain pathological significance; the mutation does not affect functional properties; dbSNP:rs104894220. VAR_017143 rs104894220 Y Y ECO:0000269 PubMed:10220438 PubMed:10716258 UniProtKB DGA, AAE 9/3/2014 174 3300033323 curatus P14416 1813 DRD2 Homo sapiens 9606 Feature/sequence variant P310S; In dbSNP:rs1800496. VAR_014674 rs1800496 Y Y UniProtKB DGA, AAE 9/3/2014 174 3300033324 curatus P14416 1813 DRD2 Homo sapiens 9606 Feature/sequence variant S311C; May be associated with a higher risk for schizophrenia; dbSNP:rs1801028. VAR_003462 rs1801028 Y Y ECO:0000269 PubMed:7902708 UniProtKB DGA, AAE 9/3/2014 174 3300033325 curatus P14416 1813 DRD2 Homo sapiens 9606 Feature/sequence variant K327E; In dbSNP:rs71653614. VAR_064579 rs71653614 Y Y ECO:0000269 PubMed:21179162 UniProtKB DGA, AAE 9/3/2014 174 3300033326 curatus P35462 1814 DRD3 Homo sapiens 9606 Feature/splice variant P35462-3;Isoform 3;Position 287-320:SPTIAPKLSLEVRKLSNGRLSTSLKLGPLQPRGV->M;In isoform 3. VSP_040570 Y Y UniProtKB AAE 9/3/2014 147 3300033327 curatus P35462 1814 DRD3 Homo sapiens 9606 Feature/sequence variant S9G; Associated with susceptibility to ETM1; gain of function; dbSNP:rs6280. VAR_003463 rs6280 Y Y ECO:0000269 PubMed:16650084 PubMed:16809426 PubMed:16641997 PubMed:15489334 submission: PubMed:9034004 PubMed:10391209 UniProtKB AAE 9/3/2014 147 3300033328 curatus P21917 1815 DRD4 Homo sapiens 9606 Feature/sequence variant V194G; In Afro-Caribbeans; dbSNP:rs1800443. VAR_003464 rs1800443 Y Y ECO:0000269 PubMed:7726213 UniProtKB DGA, AAE 9/3/2014 142 3300033329 curatus P21917 1815 DRD4 Homo sapiens 9606 Feature/sequence variant 265-344:Missing; In allele D4.2. VAR_003465 Y Y UniProtKB DGA, AAE 9/3/2014 142 3300033330 curatus P21917 1815 DRD4 Homo sapiens 9606 Feature/sequence variant 281-328:Missing; In allele D4.4. VAR_003466 Y Y UniProtKB DGA, AAE 9/3/2014 142 3300033331 curatus P21917 1815 DRD4 Homo sapiens 9606 Feature/sequence variant A281P; In dbSNP:rs3889692. VAR_055914 rs3889692 Y Y UniProtKB DGA, AAE 9/3/2014 142 3300033332 curatus P21917 1815 DRD4 Homo sapiens 9606 Feature/sequence variant P329A; In allele D4.4. VAR_003467 Y Y UniProtKB DGA, AAE 9/3/2014 142 3300033333 curatus P21917 1815 DRD4 Homo sapiens 9606 Feature/sequence variant G332S; In allele D4.4. VAR_003468 Y Y ECO:0000269 submission: submission: UniProtKB DGA, AAE 9/3/2014 142 3300033334 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Feature/splice variant O14788-2;Isoform 2;SODF;Position 1-73:Missing;In isoform 2. VSP_006447 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033335 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Feature/splice variant O14788-3;Isoform 3;Position 1-47:Missing;In isoform 3. VSP_006446 Y Y UniProtKB DGA, AAE 7/9/2014 137 3300033336 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Feature/sequence variant M199K; In OPTB2. VAR_037424 Y Y ECO:0000269 PubMed:17632511 UniProtKB DGA, AAE 7/9/2014 137 3300033337 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Feature/mutagenesis site R223A; Reduces affinity for TNFRSF11B. Y Y ECO:0000269 PubMed:22664871 UniProtKB DGA, AAE 7/9/2014 137 3300033338 curatus O14788 8600 TNFSF11 Homo sapiens 9606 Feature/mutagenesis site K257A; Reduces affinity for TNFRSF11B. Y Y ECO:0000269 PubMed:22664871 UniProtKB DGA, AAE 7/9/2014 137 3300033339 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/splice variant Q9Y6Q6-2;Isoform 2;delta7,8,9;Position 206-522:Missing;In isoform 2. VSP_046901 Y Y UniProtKB AAE 7/9/2014 129 3300033340 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/splice variant Q9Y6Q6-3;Isoform 3;delta8,9;Position 244-522:Missing;In isoform 3. VSP_054180 Y Y UniProtKB AAE 7/9/2014 129 3300033341 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/splice variant Q9Y6Q6-4;Isoform 4;delta9;Position 263:S->M;In isoform 4. VSP_054181 Y Y UniProtKB AAE 7/9/2014 129 3300033342 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/splice variant Q9Y6Q6-4;Isoform 4;delta9;Position 264-616:Missing;In isoform 4. VSP_054182 Y Y UniProtKB AAE 7/9/2014 129 3300033343 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/splice variant Q9Y6Q6-5;Isoform 5;exon9a;Position 523-616:GNVTGNSNSTFISSGQVMNFKGDIIVVYVSQTSQEGAAAAAEPMGRPVQEETLARRDSFAGNGPRFPDPCGGPEGLREPEKASRPVQEQGGAKA->D;In isoform 5. VSP_054183 Y Y UniProtKB AAE 7/9/2014 129 3300033344 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/splice variant Q9Y6Q6-6;Isoform RANK-e5a;Position 143-157:LQLNKDTVCKPCLAG->C;In isoform RANK-e5a. VSP_054179 Reduced abilitity to bind RANKL and to activate NF-kappaB as compared to isoform 1. Y Y UniProtKB AAE 7/9/2014 129 3300033345 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/sequence variant L21LALLLLCALL; In PDB2. VAR_011516 Y Y UniProtKB AAE 7/9/2014 129 3300033346 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/sequence variant L21LLLCALL; In FEO. VAR_011517 Y Y ECO:0000269 PubMed:10615125 UniProtKB AAE 7/9/2014 129 3300033347 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/sequence variant G53R; In OPTB7; two patients with osteoclast-poor osteopetrosis. VAR_046788 Y Y ECO:0000269 PubMed:18606301 UniProtKB AAE 7/9/2014 129 3300033348 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/sequence variant R129C; In OPTB7; a patient with osteoclast-poor osteopetrosis. VAR_046789 Y Y ECO:0000269 PubMed:18606301 UniProtKB AAE 7/9/2014 129 3300033349 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/sequence variant H141Y; In dbSNP:rs35211496. VAR_046790 rs35211496 Y Y UniProtKB AAE 7/9/2014 129 3300033350 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/sequence variant R170G; In OPTB7; two siblings with osteoclast-poor osteopetrosis. VAR_046791 Y Y ECO:0000269 PubMed:18606301 UniProtKB AAE 7/9/2014 129 3300033351 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/sequence variant C175R; In OPTB7; two patients with osteoclast-poor osteopetrosis. VAR_046792 Y Y ECO:0000269 PubMed:18606301 UniProtKB AAE 7/9/2014 129 3300033352 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/sequence variant A192V; In dbSNP:rs1805034. VAR_011518 rs1805034 Y Y ECO:0000269 PubMed:10615125 UniProtKB AAE 7/9/2014 129 3300033353 curatus Q9Y6Q6 8792 TNFRSF11A Homo sapiens 9606 Feature/sequence variant A244S; In OPTB7; one patient with osteoclast-poor osteopetrosis. VAR_046793 Y Y ECO:0000269 PubMed:18606301 UniProtKB AAE 7/9/2014 129 3300033354 curatus P43405 6850 SYK Homo sapiens 9606 Feature/splice variant P43405-2;Isoform Short;Position 283-305:Missing;In isoform Short. VSP_005010 Y Y UniProtKB AAE 9/3/2014 171 3300033358 curatus P43405 6850 SYK Homo sapiens 9606 Feature/sequence variant R45H; In dbSNP:rs16906862. VAR_033838 rs16906862 Y Y UniProtKB AAE 9/3/2014 171 3300033359 curatus P43405 6850 SYK Homo sapiens 9606 Feature/mutagenesis site S297A; Abolishes YWHAG binding. Y Y ECO:0000269 PubMed:21469132 UniProtKB AAE 9/3/2014 171 3300033360 curatus P43405 6850 SYK Homo sapiens 9606 Feature/mutagenesis site Y630F; Loss of interaction with BLNK. Y Y ECO:0000269 PubMed:18369315 UniProtKB AAE 9/3/2014 171 3300033361 curatus P45984 5601 MAPK9 Homo sapiens 9606 Feature/splice variant P45984-2;Isoform Alpha-1;Position 378-424:DAAVSSNATPSQSSSINDISSMSTEQTLASDTDSSLDASTGPLEGCR->AQMQQ;In isoform Alpha-1 and isoform Beta-1. VSP_004835 Y Y UniProtKB DGA, AAE 9/3/2014 160 3300033362 curatus P45984 5601 MAPK9 Homo sapiens 9606 Feature/splice variant P45984-3;Isoform Beta-1;Position 216-230:GELVKGCVIFQGTDH->AEMVLHKVLFPGRDY;In isoform Beta-1 and isoform Beta-2. VSP_004834 Y Y UniProtKB DGA, AAE 9/3/2014 160 3300033363 curatus P45984 5601 MAPK9 Homo sapiens 9606 Feature/splice variant P45984-3;Isoform Beta-1;Position 378-424:DAAVSSNATPSQSSSINDISSMSTEQTLASDTDSSLDASTGPLEGCR->AQMQQ;In isoform Alpha-1 and isoform Beta-1. VSP_004835 Y Y UniProtKB DGA, AAE 9/3/2014 160 3300033364 curatus P45984 5601 MAPK9 Homo sapiens 9606 Feature/splice variant P45984-4;Isoform Beta-2;Position 216-230:GELVKGCVIFQGTDH->AEMVLHKVLFPGRDY;In isoform Beta-1 and isoform Beta-2. VSP_004834 Y Y UniProtKB DGA, AAE 9/3/2014 160 3300033365 curatus P45984 5601 MAPK9 Homo sapiens 9606 Feature/splice variant P45984-5;Isoform 5;Position 230-242:HIDQWNKVIEQLG->RILPRDLGPAMLS;In isoform 5. VSP_041908 Y Y UniProtKB DGA, AAE 9/3/2014 160 3300033366 curatus P45984 5601 MAPK9 Homo sapiens 9606 Feature/splice variant P45984-5;Isoform 5;Position 243-424:Missing;In isoform 5. VSP_041909 Y Y UniProtKB DGA, AAE 9/3/2014 160 3300033367 curatus P45984 5601 MAPK9 Homo sapiens 9606 Feature/sequence variant V13M; In a colorectal adenocarcinoma sample; somatic mutation. VAR_042260 Y Y ECO:0000269 PubMed:17344846 UniProtKB DGA, AAE 9/3/2014 160 3300033368 curatus P45984 5601 MAPK9 Homo sapiens 9606 Feature/sequence variant K56N; In a head & Neck squamous cell carcinoma sample; somatic mutation. VAR_042261 Y Y ECO:0000269 PubMed:17344846 UniProtKB DGA, AAE 9/3/2014 160 3300033369 curatus P45984 5601 MAPK9 Homo sapiens 9606 Feature/sequence variant A246T; In dbSNP:rs35421153. VAR_042262 rs35421153 Y Y ECO:0000269 PubMed:17344846 UniProtKB DGA, AAE 9/3/2014 160 3300033370 curatus P45984 5601 MAPK9 Homo sapiens 9606 Feature/sequence variant G268A; In dbSNP:rs35693958. VAR_025175 rs35693958 Y Y ECO:0000269 submission: UniProtKB DGA, AAE 9/3/2014 160 3300033371 curatus P45984 5601 MAPK9 Homo sapiens 9606 Feature/sequence variant R366I; In dbSNP:rs55736180. VAR_042263 rs55736180 Y Y ECO:0000269 PubMed:17344846 UniProtKB DGA, AAE 9/3/2014 160 3300033372 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Feature/splice variant Q86YL7-2;Isoform 2;hT1alpha-1;Position 1-100:Missing;In isoform 2. VSP_051949 Y Y ECO:0000269 UniProtKB AAE 7/9/2014 98 3300033373 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Feature/splice variant Q86YL7-2;Isoform 2;hT1alpha-1;Position 101-123:ASNVATSHSTEKVDGDTQTTVEK->MLHILSPMYFFLWGSCFFPLSSS;In isoform 2. VSP_051950 Y Y ECO:0000269 UniProtKB AAE 7/9/2014 98 3300033374 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Feature/splice variant Q86YL7-2;Isoform 2;hT1alpha-1;Position 162:P->EVNSLHPCDRQMKAIVSRTQIFELIEISDISWVWWLVPVVSAAGQLQTSLGNIVRPCLKKIISGTMVMFQSSLLGPLECSGSHLESQCFERLRRQEVHLCPGI;In isoform 2. VSP_051951 Y Y ECO:0000269 UniProtKB AAE 7/9/2014 98 3300033375 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Feature/splice variant Q86YL7-3;Isoform 3;Position 1:M->MLTPLGKFSTAKFAVRLPRVWEARAPSLSGAPAPTPPAPPPSRSSRLGLWPRCFLIFPQLRILLLGPQESNNSTGTM;In isoform 3 and isoform 4. VSP_035753 Y Y UniProtKB AAE 7/9/2014 98 3300033376 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Feature/splice variant Q86YL7-4;Isoform 4;Position 1:M->MLTPLGKFSTAKFAVRLPRVWEARAPSLSGAPAPTPPAPPPSRSSRLGLWPRCFLIFPQLRILLLGPQESNNSTGTM;In isoform 3 and isoform 4. VSP_035753 Y Y UniProtKB AAE 7/9/2014 98 3300033377 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Feature/splice variant Q86YL7-4;Isoform 4;Position 160-162:YSP->P;In isoform 4. VSP_035754 Y Y UniProtKB AAE 7/9/2014 98 3300033378 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Feature/sequence variant A105G; In dbSNP:rs2486188. VAR_028015 rs2486188 Y Y UniProtKB AAE 7/9/2014 98 3300033382 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Feature/sequence variant A147G; In dbSNP:rs2486188. VAR_028016 rs2486188 Y Y ECO:0000269 PubMed:9651190 PubMed:10393083 submission: PubMed:15489334 PubMed:14702039 PubMed:16303743 submission: UniProtKB AAE 7/9/2014 98 3300033383 curatus Q86YL7 10630 PDPN Homo sapiens 9606 Feature/mutagenesis site T52A; Eliminates induction of platelet aggregation. Y Y ECO:0000269 PubMed:14522983 UniProtKB AAE 7/9/2014 98 3300033384 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Feature/sequence variant L102P; In HH8; absence of inositol phosphate accumulation under kisspeptin challenge; normal affinity for kisspeptin. VAR_043906 Y Y ECO:0000269 PubMed:17164310 UniProtKB AAE 9/3/2014 114 3300033385 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Feature/sequence variant L148S; In HH8; 65% reduction of inositol phosphate production; dbSNP:rs28939719. VAR_021392 rs28939719 Y Y ECO:0000269 PubMed:14573733 UniProtKB AAE 9/3/2014 114 3300033386 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Feature/sequence variant A189T; In HH8; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; the patient also carries a mutation in FGFR1. VAR_069961 Y Y ECO:0000269 PubMed:23643382 UniProtKB AAE 9/3/2014 114 3300033387 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Feature/sequence variant A194D; In HH8; phenotype consistent with Kallmann syndrome; the patient also carries a mutation in IL17RD. VAR_069962 Y Y ECO:0000269 PubMed:23643382 UniProtKB AAE 9/3/2014 114 3300033388 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Feature/sequence variant C223R; In HH8; exhibit profoundly impaired signaling. VAR_021393 Y Y ECO:0000269 PubMed:15598687 UniProtKB AAE 9/3/2014 114 3300033389 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Feature/sequence variant R297L; In HH8; mild reduction in ligand-stimulated activity across the ligand dose range. VAR_021394 Y Y ECO:0000269 PubMed:15598687 UniProtKB AAE 9/3/2014 114 3300033390 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Feature/sequence variant L364H; In dbSNP:rs350132. VAR_021395 rs350132 Y Y ECO:0000269 PubMed:11457843 PubMed:11385580 PubMed:11414709 PubMed:14573733 PubMed:15598687 submission: PubMed:15489334 UniProtKB AAE 9/3/2014 114 3300033391 curatus Q969F8 84634 KISS1R Homo sapiens 9606 Feature/sequence variant R386P; In CPPB1; reduced rate of decline in inositol phosphate accumulation after kisspeptin stimulation; prolonged phosphorylation of ERK. VAR_043907 Y Y ECO:0000269 PubMed:18272894 UniProtKB AAE 9/3/2014 114 3300033392 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Feature/splice variant Q9NYA1-2;Isoform 2;Position 1:M->MSAQVLGFLRSWTPLPLAAPRGPAAAGNDAGAPAATAPGGEGEPHSRPCDARLGSTDKELKAGAAATGSAPTAPGTPWQREPRVEVM;In isoform 2. VSP_035453 Y Y UniProtKB Variant in position: 34:A->T (in dbSNP:rs346803). AAE 9/3/2014 126 3300033393 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Feature/splice variant Q9NYA1-3;Isoform 3;Position 3:P->PVVGCGRGLFGFVFS;In isoform 3. VSP_047078 Y Y UniProtKB AAE 9/3/2014 126 3300033394 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Feature/mutagenesis site D81A; Loss of enzyme activity. Y Y ECO:0000269 PubMed:23602659 PubMed:19854831 UniProtKB AAE 9/3/2014 126 3300033395 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Feature/mutagenesis site D81N; Strongly reduced enzyme activity. Y Y ECO:0000269 PubMed:23602659 PubMed:19854831 UniProtKB AAE 9/3/2014 126 3300033396 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Feature/mutagenesis site G82D; Loss of enzyme activity. Y Y ECO:0000269 PubMed:20577214 UniProtKB AAE 9/3/2014 126 3300033397 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Feature/mutagenesis site F197A; Abolishes interaction with CIB1; when associated with A-198. Y Y ECO:0000269 PubMed:19854831 UniProtKB AAE 9/3/2014 126 3300033398 curatus Q9NYA1 8877 SPHK1 Homo sapiens 9606 Feature/mutagenesis site L198A; Abolishes interaction with CIB1; when associated with A-197. Y Y ECO:0000269 PubMed:19854831 UniProtKB AAE 9/3/2014 126 3300033399 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/splice variant P19438-4;Isoform 4;Delta6-TNFR1;Position 184-455:NCKKSLECTKLCLPQIENVKGTEDSGTTVLLPLVIFFGLCLLSLLFIGLMYRYQRWKSKLYSIVCGKSTPEKEGELEGTTTKPLAPNPSFSPTPGFTPTLGFSPVPSSTFTSSSTYTPGDCPNFAAPRREVAPPYQGADPILATALASDPIPNPLQKWEDSAHKPQSLDTDDPATLYAVVENVPPLRWKEFVRRLGLSDHEIDRLELQNGRCLREAQYSMLATWRRRTPRREATLELLGRVLRDMDLLGCLEDIEEALCGPAALPPAPSLLR->KHHSAVAPGHFLWSLPFIPPLHWFNVSLPTVEVQALLHCLWEIDT;In isoform 4. VSP_044949 Disease-associated isoform. Isoform 4 splicing pattern is driven by a variation in the exon 6/intron 6 boundary region that alters exon 6 splicing. Exon 6 skipping introduces a frameshift and the translation of a protein lacking the intracellular, the transmembrane and part of the extracellular domain. Y Y UniProtKB DGA, AAE 9/3/2014 188 3300033401 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant H51Q; In FHF. VAR_019329 Y Y ECO:0000269 PubMed:11443543 UniProtKB DGA, AAE 9/3/2014 188 3300033405 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant C59R; In FHF. VAR_013410 Y Y ECO:0000269 PubMed:10199409 UniProtKB DGA, AAE 9/3/2014 188 3300033406 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant C59S; In FHF. VAR_019302 Y Y ECO:0000269 PubMed:10902757 PubMed:11443543 UniProtKB DGA, AAE 9/3/2014 188 3300033407 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant C62G; In FHF. VAR_019303 Y Y ECO:0000269 PubMed:11443543 UniProtKB DGA, AAE 9/3/2014 188 3300033408 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant C62Y; In FHF. VAR_013411 Y Y ECO:0000269 PubMed:10199409 UniProtKB DGA, AAE 9/3/2014 188 3300033409 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant P75L; In FHF; may be a polymorphism; dbSNP:rs4149637. VAR_019330 rs4149637 Y Y ECO:0000269 PubMed:11443543 submission: UniProtKB DGA, AAE 9/3/2014 188 3300033410 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant T79M; In FHF. VAR_013412 Y Y ECO:0000269 PubMed:10199409 UniProtKB DGA, AAE 9/3/2014 188 3300033411 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant C81F; In FHF. VAR_013413 Y Y ECO:0000269 PubMed:10199409 UniProtKB DGA, AAE 9/3/2014 188 3300033412 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant C99S; In FHF. VAR_019304 Y Y ECO:0000269 PubMed:13130484 PubMed:14610673 UniProtKB DGA, AAE 9/3/2014 188 3300033413 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant S115G; In FHF. VAR_019331 Y Y ECO:0000269 PubMed:11443543 UniProtKB DGA, AAE 9/3/2014 188 3300033414 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant C117R; In FHF. VAR_013414 Y Y ECO:0000269 PubMed:10199409 UniProtKB DGA, AAE 9/3/2014 188 3300033415 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant C117Y; In FHF. VAR_013415 Y Y ECO:0000269 PubMed:10199409 UniProtKB DGA, AAE 9/3/2014 188 3300033416 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant R121P; In FHF; dbSNP:rs4149584. VAR_019305 rs4149584 Y Y ECO:0000269 PubMed:13130484 UniProtKB DGA, AAE 9/3/2014 188 3300033417 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant R121Q; In FHF; may be a polymorphism; dbSNP:rs4149584. VAR_019332 rs4149584 Y Y ECO:0000269 PubMed:11443543 submission: UniProtKB DGA, AAE 9/3/2014 188 3300033418 curatus P19438 7132 TNFRSF1A Homo sapiens 9606 Feature/sequence variant P305T; In dbSNP:rs1804532. VAR_011813 rs1804532 Y Y UniProtKB DGA, AAE 9/3/2014 188 3300033419 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant S17F; In NDI. VAR_004980 Y Y ECO:0000269 PubMed:8554046 UniProtKB DGA, AAE 9/3/2014 161 3300033420 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant A19T; In NDI; probably causes insufficient processing of precursor. VAR_004981 Y Y ECO:0000269 PubMed:8370682 PubMed:8514868 PubMed:8554046 PubMed:9580132 PubMed:12519420 PubMed:14673472 UniProtKB DGA, AAE 9/3/2014 161 3300033421 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant A19V; In NDI. VAR_004982 Y Y ECO:0000269 PubMed:8554046 PubMed:14673472 UniProtKB DGA, AAE 9/3/2014 161 3300033422 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant Y21H; In NDI. VAR_015262 Y Y ECO:0000269 PubMed:12107248 UniProtKB DGA, AAE 9/3/2014 161 3300033423 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant P26L; In NDI; weakly active. VAR_015263 Y Y ECO:0000269 PubMed:10369876 UniProtKB DGA, AAE 9/3/2014 161 3300033424 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant G45R; In NDI. VAR_004983 Y Y ECO:0000269 PubMed:8554046 UniProtKB DGA, AAE 9/3/2014 161 3300033425 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant G48V; In NDI. VAR_004984 Y Y ECO:0000269 PubMed:1740104 UniProtKB DGA, AAE 9/3/2014 161 3300033426 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant R51C; In NDI. VAR_004985 Y Y ECO:0000269 PubMed:8554046 UniProtKB DGA, AAE 9/3/2014 161 3300033427 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C52R; In NDI. VAR_015264 Y Y UniProtKB DGA, AAE 9/3/2014 161 3300033428 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant G54R; In NDI. VAR_015265 Y Y ECO:0000269 PubMed:10487710 PubMed:11980620 PubMed:14673472 UniProtKB DGA, AAE 9/3/2014 161 3300033429 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant G54V; In NDI. VAR_015266 Y Y ECO:0000269 PubMed:9360520 UniProtKB DGA, AAE 9/3/2014 161 3300033430 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant P55L; In NDI. VAR_004986 Y Y ECO:0000269 PubMed:8045958 UniProtKB DGA, AAE 9/3/2014 161 3300033431 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C58F; In NDI. VAR_029997 Y Y ECO:0000269 PubMed:12931042 UniProtKB DGA, AAE 9/3/2014 161 3300033432 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C59R; In NDI. VAR_015267 Y Y UniProtKB DGA, AAE 9/3/2014 161 3300033433 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C59Y; In NDI. VAR_015268 Y Y ECO:0000269 PubMed:11150885 UniProtKB DGA, AAE 9/3/2014 161 3300033434 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant V67A; In NDI; dbSNP:rs28934878. VAR_019273 rs28934878 Y Y ECO:0000269 PubMed:14673472 UniProtKB DGA, AAE 9/3/2014 161 3300033435 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant E78G; In NDI. VAR_004988 Y Y ECO:0000269 PubMed:8554046 PubMed:14673472 UniProtKB DGA, AAE 9/3/2014 161 3300033436 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant 78:Missing; In NDI. VAR_004987 Y Y ECO:0000269 PubMed:8103767 PubMed:14673472 UniProtKB DGA, AAE 9/3/2014 161 3300033437 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant L81P; In NDI. VAR_004989 Y Y ECO:0000269 PubMed:8554046 UniProtKB DGA, AAE 9/3/2014 161 3300033438 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant P82L; In dbSNP:rs5195. VAR_011894 rs5195 Y Y UniProtKB DGA, AAE 9/3/2014 161 3300033439 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant S87F; In NDI. VAR_015269 Y Y ECO:0000269 PubMed:9814475 UniProtKB DGA, AAE 9/3/2014 161 3300033440 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant G88R; In NDI. VAR_004990 Y Y ECO:0000269 PubMed:8554046 UniProtKB DGA, AAE 9/3/2014 161 3300033441 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant G88S; In NDI. VAR_004991 Y Y ECO:0000269 PubMed:8554046 UniProtKB DGA, AAE 9/3/2014 161 3300033442 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C92S; In NDI. VAR_004992 Y Y ECO:0000269 PubMed:8554046 PubMed:12012274 UniProtKB DGA, AAE 9/3/2014 161 3300033443 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C92Y; In NDI. VAR_015270 Y Y ECO:0000269 PubMed:9814475 PubMed:11980620 UniProtKB DGA, AAE 9/3/2014 161 3300033444 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant G93W; In NDI. VAR_004993 Y Y ECO:0000269 PubMed:7714110 UniProtKB DGA, AAE 9/3/2014 161 3300033445 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant G96C; In NDI. VAR_004994 Y Y ECO:0000269 PubMed:8554046 PubMed:14673472 UniProtKB DGA, AAE 9/3/2014 161 3300033446 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant G96D; In NDI. VAR_019274 Y Y ECO:0000269 PubMed:14673472 UniProtKB DGA, AAE 9/3/2014 161 3300033447 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant G96V; In NDI. VAR_015271 Y Y UniProtKB DGA, AAE 9/3/2014 161 3300033448 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant R97C; In NDI. VAR_015272 Y Y UniProtKB DGA, AAE 9/3/2014 161 3300033449 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant R97P; In NDI. VAR_015273 Y Y ECO:0000269 PubMed:11748489 UniProtKB DGA, AAE 9/3/2014 161 3300033450 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C98G; In NDI. VAR_015274 Y Y ECO:0000269 PubMed:11161827 UniProtKB DGA, AAE 9/3/2014 161 3300033451 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C98S; In NDI. VAR_029998 Y Y ECO:0000269 PubMed:15538939 UniProtKB DGA, AAE 9/3/2014 161 3300033452 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant A99P; In NDI. VAR_029999 Y Y ECO:0000269 PubMed:14510916 UniProtKB DGA, AAE 9/3/2014 161 3300033453 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C104F; In NDI. VAR_015275 Y Y ECO:0000269 PubMed:12359138 UniProtKB DGA, AAE 9/3/2014 161 3300033454 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C104G; In NDI. VAR_019275 Y Y ECO:0000269 PubMed:14673472 UniProtKB DGA, AAE 9/3/2014 161 3300033455 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C105R; In NDI. VAR_015276 Y Y ECO:0000269 PubMed:11980620 UniProtKB DGA, AAE 9/3/2014 161 3300033456 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C105Y; In NDI. VAR_015279 Y Y ECO:0000269 PubMed:10677561 UniProtKB DGA, AAE 9/3/2014 161 3300033457 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C116G; In NDI; strong accumulation in the endoplasmic reticulum and an altered morphology of this organelle. VAR_015277 Y Y ECO:0000269 PubMed:11017955 PubMed:11443218 UniProtKB DGA, AAE 9/3/2014 161 3300033458 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C116R; In NDI. VAR_015278 Y Y ECO:0000269 PubMed:11017955 UniProtKB DGA, AAE 9/3/2014 161 3300033459 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant C116W; In NDI. VAR_019276 Y Y ECO:0000269 PubMed:14673472 UniProtKB DGA, AAE 9/3/2014 161 3300033460 curatus 551 AVP Homo sapiens 9606 Feature/sequence variant G119V; In dbSNP:rs1051744. VAR_011895 rs1051744 Y Y ECO:0000269 submission: UniProtKB DGA, AAE 9/3/2014 161 3300033461 curatus P08949 4828 NMB Homo sapiens 9606 Feature/sequence variant P73T; In dbSNP:rs1051168. VAR_060369 rs1051168 Y Y ECO:0000269 PubMed:15489334 UniProtKB AAE 9/3/2014 142 3300033463 curatus 2205 FCER1A Homo sapiens 9606 Feature/sequence variant K84R; In dbSNP:rs2298804. VAR_020091 rs2298804 Y Y UniProtKB DGA, AAE 9/3/2014 147 3300033464 curatus 2205 FCER1A Homo sapiens 9606 Feature/sequence variant S101N; In dbSNP:rs2298805. VAR_020092 rs2298805 Y Y UniProtKB DGA, AAE 9/3/2014 147 3300033465 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/splice variant P14598-2;Isoform 2;Position 193:W->QTSHLTGLLPLVLRNPQPQAPCQGSGSLAPGRTPALLGALNVLPTLWVAFCLSVHPVVAVGICAWQAGAGHVCVFCLDGYGTVCSL;In isoform 2. VSP_035032 Y Y UniProtKB Due to intron retention. AAE 9/3/2014 176 3300033466 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/splice variant P14598-2;Isoform 2;Position 194-390:Missing;In isoform 2. VSP_035033 Y Y UniProtKB Due to intron retention. AAE 9/3/2014 176 3300033467 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/sequence variant R42Q; In CGD1. VAR_012476 Y Y ECO:0000269 PubMed:11133775 UniProtKB AAE 9/3/2014 176 3300033468 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/sequence variant R90H; In dbSNP:rs13447. VAR_014735 rs13447 Y Y UniProtKB AAE 9/3/2014 176 3300033469 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/sequence variant G99S; In dbSNP:rs17856077. VAR_018479 rs17856077 Y Y ECO:0000269 PubMed:2547247 PubMed:2398896 PubMed:9329953 PubMed:10772875 PubMed:11740866 PubMed:14702039 submission: PubMed:15489334 UniProtKB AAE 9/3/2014 176 3300033470 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/sequence variant T160S; VAR_012477 Y Y UniProtKB AAE 9/3/2014 176 3300033471 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/sequence variant N166D; In dbSNP:rs4868. VAR_012478 rs4868 Y Y ECO:0000269 PubMed:2547247 PubMed:2398896 PubMed:11740866 submission: UniProtKB AAE 9/3/2014 176 3300033472 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/sequence variant K258E; VAR_018476 Y Y ECO:0000269 PubMed:11740866 UniProtKB AAE 9/3/2014 176 3300033473 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/sequence variant G262S; VAR_012479 Y Y ECO:0000269 PubMed:11133775 UniProtKB AAE 9/3/2014 176 3300033474 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/sequence variant A308V; In dbSNP:rs13739. VAR_012480 rs13739 Y Y UniProtKB AAE 9/3/2014 176 3300033475 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/mutagenesis site R43Q; Reduces affinity for membranes enriched in phosphatidylinositol 3,4-bisphosphate. Y Y ECO:0000269 PubMed:12356722 UniProtKB AAE 9/3/2014 176 3300033476 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/mutagenesis site R90A; Reduces affinity for membranes enriched in phosphatidylinositol 3,4-bisphosphate. Y Y UniProtKB AAE 9/3/2014 176 3300033477 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/mutagenesis site W263R; Abolishes autoinhibition and promotes phospholipid binding. Y Y ECO:0000269 PubMed:12356722 UniProtKB AAE 9/3/2014 176 3300033478 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/mutagenesis site S303E; Abolishes autoinhibition and promotes phospholipid binding; when associated with E-304; E-328; E-359 and E-370. Y Y ECO:0000269 PubMed:12356722 UniProtKB AAE 9/3/2014 176 3300033479 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/mutagenesis site S304E; Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-328; E-359 and E-370. Y Y ECO:0000269 PubMed:12356722 UniProtKB AAE 9/3/2014 176 3300033480 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/mutagenesis site S328E; Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-304; E-359 and E-370. Y Y ECO:0000269 PubMed:12356722 UniProtKB AAE 9/3/2014 176 3300033481 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/mutagenesis site S359E; Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-304; E-328 and E-370. Y Y ECO:0000269 PubMed:12356722 UniProtKB AAE 9/3/2014 176 3300033482 curatus P14598 653361 NCF1 Homo sapiens 9606 Feature/mutagenesis site S370E; Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-304; E-328 and E-359. Y Y ECO:0000269 PubMed:12356722 UniProtKB AAE 9/3/2014 176 3300033483 curatus P31391 6754 SSTR4 Homo sapiens 9606 Feature/sequence variant N83T; In dbSNP:rs1065191. VAR_011703 rs1065191 Y Y ECO:0000269 PubMed:8483934 UniProtKB AAE 9/3/2014 140 3300033484 curatus P31391 6754 SSTR4 Homo sapiens 9606 Feature/sequence variant G236D; In dbSNP:rs35601930. VAR_049441 rs35601930 Y Y UniProtKB AAE 9/3/2014 140 3300033485 curatus P31391 6754 SSTR4 Homo sapiens 9606 Feature/sequence variant F284V; In dbSNP:rs3746726. VAR_021560 rs3746726 Y Y ECO:0000269 PubMed:8483934 PubMed:8512564 submission: PubMed:15489334 UniProtKB AAE 9/3/2014 140 3300033486 curatus P31391 6754 SSTR4 Homo sapiens 9606 Feature/sequence variant F321S; In dbSNP:rs2567608. VAR_021561 rs2567608 Y Y ECO:0000269 PubMed:8483934 PubMed:8512564 submission: PubMed:15489334 UniProtKB AAE 9/3/2014 140 3300033487 curatus P37288 552 AVPR1A Homo sapiens 9606 Feature/sequence variant G6S; In dbSNP:rs2228154. VAR_022065 rs2228154 Y Y UniProtKB DGA, AAE 9/3/2014 137 3300033488 curatus 7097 TLR2 Homo sapiens 9606 Feature/sequence variant N89D; VAR_066349 Y Y ECO:0000269 PubMed:21618349 UniProtKB DGA, AAE 9/3/2014 159 3300033489 curatus 7097 TLR2 Homo sapiens 9606 Feature/sequence variant T411I; Reduces TLR2-mediated NF-kappa-B activation; dbSNP:rs5743699. VAR_026765 rs5743699 Y Y ECO:0000269 PubMed:21618349 UniProtKB DGA, AAE 9/3/2014 159 3300033490 curatus 7097 TLR2 Homo sapiens 9606 Feature/sequence variant R571H; In dbSNP:rs61735277. VAR_066350 rs61735277 Y Y ECO:0000269 PubMed:21618349 UniProtKB DGA, AAE 9/3/2014 159 3300033491 curatus 7097 TLR2 Homo sapiens 9606 Feature/sequence variant R579H; In dbSNP:rs5743703. VAR_026766 rs5743703 Y Y UniProtKB DGA, AAE 9/3/2014 159 3300033492 curatus 7097 TLR2 Homo sapiens 9606 Feature/sequence variant P631H; Reduces TLR2-mediated NF-kappa-B activation; dbSNP:rs5743704. VAR_024663 rs5743704 Y Y ECO:0000269 PubMed:21618349 PubMed:19924287 UniProtKB DGA, AAE 9/3/2014 159 3300033493 curatus 7097 TLR2 Homo sapiens 9606 Feature/sequence variant S636R; In dbSNP:rs137853177. VAR_066351 rs137853177 Y Y ECO:0000269 PubMed:21618349 UniProtKB DGA, AAE 9/3/2014 159 3300033494 curatus 7097 TLR2 Homo sapiens 9606 Feature/sequence variant R677W; VAR_031236 Y Y ECO:0000269 PubMed:11476982 PubMed:12646604 UniProtKB DGA, AAE 9/3/2014 159 3300033495 curatus 7097 TLR2 Homo sapiens 9606 Feature/sequence variant Y715N; In dbSNP:rs5743706. VAR_052360 rs5743706 Y Y UniProtKB DGA, AAE 9/3/2014 159 3300033496 curatus 7097 TLR2 Homo sapiens 9606 Feature/sequence variant R753Q; Reduces TLR2-mediated NF-kappa-B activation; dbSNP:rs5743708. VAR_031237 rs5743708 Y Y ECO:0000269 PubMed:21618349 PubMed:19924287 UniProtKB DGA, AAE 9/3/2014 159 3300033497 curatus 7097 TLR2 Homo sapiens 9606 Feature/mutagenesis site N114S; Prevents addition of N-glycans. Reduces secretion of the N-terminal ectodomain. Y Y ECO:0000269 PubMed:15173186 UniProtKB DGA, AAE 9/3/2014 159 3300033498 curatus 7097 TLR2 Homo sapiens 9606 Feature/mutagenesis site N199D; Prevents addition of N-glycans. Reduces secretion of the N-terminal ectodomain. Y Y ECO:0000269 PubMed:15173186 UniProtKB DGA, AAE 9/3/2014 159 3300033499 curatus 7097 TLR2 Homo sapiens 9606 Feature/mutagenesis site T416A; Prevents addition of N-glycans. Reduces secretion of the N-terminal ectodomain. Y Y ECO:0000269 PubMed:15173186 UniProtKB DGA, AAE 9/3/2014 159 3300033500 curatus 7097 TLR2 Homo sapiens 9606 Feature/mutagenesis site N442D; Prevents addition of N-glycans. Prevents secretion of the N-terminal ectodomain. Y Y ECO:0000269 PubMed:15173186 UniProtKB DGA, AAE 9/3/2014 159 3300033501 curatus 7097 TLR2 Homo sapiens 9606 Feature/mutagenesis site P681F; Abolishes the interaction with MYD88. No effect on oligomerization or on the structure of the TIR domain. Y Y UniProtKB DGA, AAE 9/3/2014 159 3300033502 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/splice variant Q96EB6-2;Isoform 2;delta-exon8;Position 454-639:Missing;In isoform 2. VSP_042189 Y Y UniProtKB DGA, AAE 9/3/2014 137 3300033503 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/sequence variant D3E; In dbSNP:rs35671182. VAR_025148 rs35671182 Y Y ECO:0000269 submission: UniProtKB DGA, AAE 9/3/2014 137 3300033504 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/sequence variant V484D; In dbSNP:rs1063111. VAR_051976 rs1063111 Y Y UniProtKB DGA, AAE 9/3/2014 137 3300033505 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site S27A; Greatly diminishes phosphorylation by MAPK8; when associated with A-47 and A-530. Y Y ECO:0000269 PubMed:20027304 UniProtKB DGA, AAE 9/3/2014 137 3300033506 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site S47A; Blocks residue phosphorylation, restores deacetylation activity and inhibits DNA damage-induced apoptosis. Y Y ECO:0000269 PubMed:21471201 PubMed:20027304 UniProtKB DGA, AAE 9/3/2014 137 3300033507 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site S47A; Greatly diminishes phosphorylation by MAPK8; when associated with A-27 and A-530. Y Y ECO:0000269 PubMed:21471201 PubMed:20027304 UniProtKB DGA, AAE 9/3/2014 137 3300033508 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site K233R; Impairs in vitro methylation by SETD7; when associated with R-235, R-236 and R-238. Y Y ECO:0000269 PubMed:21245319 UniProtKB DGA, AAE 9/3/2014 137 3300033509 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site K235R; Impairs in vitro methylation by SETD7; when associated with R-233, R-236 and R-238. Y Y ECO:0000269 PubMed:21245319 UniProtKB DGA, AAE 9/3/2014 137 3300033510 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site K236R; Impairs in vitro methylation by SETD7; when associated with R-233, R-235 and R-238. Y Y ECO:0000269 PubMed:21245319 UniProtKB DGA, AAE 9/3/2014 137 3300033511 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site K238R; Impairs in vitro methylation by SETD7; when associated with R-233, R-235a and R-236. Y Y ECO:0000269 PubMed:21245319 UniProtKB DGA, AAE 9/3/2014 137 3300033512 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site H363Y; Loss of function. Reduces the interaction with CCAR2 and APEX1. Increases acetylation of APEX1. Y Y ECO:0000269 PubMed:11672523 PubMed:12006491 PubMed:18485871 PubMed:19934257 PubMed:18235501 PubMed:12535671 PubMed:18004385 UniProtKB DGA, AAE 9/3/2014 137 3300033513 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site F474A; Abolishes phosphorylation at Ser-47, restores deacetylation activity and inhibits DNA damage-induced apoptosis. Y Y ECO:0000269 PubMed:21471201 UniProtKB DGA, AAE 9/3/2014 137 3300033514 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site T530A; Greatly diminishes phosphorylation by MAPK8; when associated with A-27 and A-47. Y Y ECO:0000269 PubMed:20027304 PubMed:19107194 UniProtKB DGA, AAE 9/3/2014 137 3300033515 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site T530A; Reduces in vitro phosphorylation by CDK1. Impairs cell proliferation and cell cycle progression; when associated with A-540. Y Y ECO:0000269 PubMed:20027304 PubMed:19107194 UniProtKB DGA, AAE 9/3/2014 137 3300033516 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site S540A; Reduces in vitro phosphorylation by CDK1. Impairs cell proliferation and cell cycle progression; when associated with A-530. Y Y ECO:0000269 PubMed:19107194 UniProtKB DGA, AAE 9/3/2014 137 3300033517 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site S659A; Reduces in vitro phosphorylation by CaMK2; when associated with S-661. Greatly reduces in vivo phosphorylation; when associated with A-661. Y Y ECO:0000269 PubMed:19236849 UniProtKB DGA, AAE 9/3/2014 137 3300033518 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site S661A; Reduces in vitro phosphorylation by CaMK2; when associated with S-659. Greatly reduces in vivo phosphorylation; when associated with A-659. Y Y ECO:0000269 PubMed:19236849 UniProtKB DGA, AAE 9/3/2014 137 3300033519 curatus Q96EB6 23411 SIRT1 Homo sapiens 9606 Feature/mutagenesis site S684A; No effect on phosphorylation (in vitro and in vivo). Y Y ECO:0000269 PubMed:19236849 UniProtKB DGA, AAE 9/3/2014 137 3300033520 curatus P21917 1815 DRD4 Homo sapiens 9606 Comment/polymorphism The number of repeats of 16 amino acids in the third cytoplasmic loop is highly polymorphic and varies among different alleles. Alleles corresponding in size to a 2 (D4.2), 3 (D4.3), 4 (D4.4), 5 (D4.5), 6 (D4.6), 7 (D4.7) and 9 (D4.9) repeats have been described. The sequence shown is that of allele D4.7. The polymorphic repeat sequence has little influence on DRD4-binding profiles and might not be essential for G protein interaction. Y Y UniProtKB DGA, AAE 9/3/2014 142 3300033771