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 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-1;Allexons Y Y UniProtKB AAP 5/1/2013 139 1000000001 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-2;Delexon-17 VSP_000037 Y Y UniProtKB AAP 5/1/2013 139 1000000002 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-3;Delexon-18 VSP_000038 Y Y UniProtKB AAP 5/1/2013 139 1000000003 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-4;Delexon-30 VSP_000039 Y Y UniProtKB AAP 5/1/2013 139 1000000004 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-5;Delexon-17-18 VSP_000037 VSP_000038 Y Y UniProtKB AAP 5/1/2013 139 1000000005 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-6;Delexon-17-30 VSP_000037 VSP_000039 Y Y UniProtKB AAP 5/1/2013 139 1000000006 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-7;Delexon-18-30 VSP_000038 VSP_000039 Y Y UniProtKB AAP 5/1/2013 139 1000000007 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-8;Delexon-17-18-30 VSP_000037 VSP_000038 VSP_000039 Y Y UniProtKB AAP 5/1/2013 139 1000000008 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-9;Isoform 9;Position 882:G->GSTVMDEEEAG;In isoform 9. VSP_017014 Y N UniProtKB No experimental confirmation available. AAP 5/1/2013 139 1000000009 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant C43S; In dbSNP:rs41395947. VAR_013317 rs41395947 Y Y ECO:0000006 PubMed:11266082 UniProtKB AAP 5/1/2013 139 1000000010 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant T73I; In dbSNP:rs41494447. VAR_013318 rs41494447 Y Y ECO:0000006 PubMed:11266082 UniProtKB AAP 5/1/2013 139 1000000011 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant M117T; VAR_013319 Y Y ECO:0000006 PubMed:1360704 PubMed:9344662 PubMed:11139250 UniProtKB AAP 5/1/2013 139 1000000012 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R433S; In dbSNP:rs60782127. VAR_013320 rs60782127 Y Y ECO:0000006 PubMed:11721885 PubMed:18987736 UniProtKB AAP 5/1/2013 139 1000000013 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R633Q; In dbSNP:rs112282109. VAR_011488 rs112282109 Y Y UniProtKB AAP 5/1/2013 139 1000000014 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant G671V; No effect on leukotriene C4 and estradiol glucuronide transport; dbSNP:rs45511401. VAR_011489 rs45511401 Y Y ECO:0000006 PubMed:11721885 PubMed:10835642 submission: PubMed:10811882 UniProtKB AAP 5/1/2013 139 1000000015 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R723Q; In dbSNP:rs4148356. VAR_013321 rs4148356 Y Y ECO:0000006 PubMed:11266082 submission: UniProtKB AAP 5/1/2013 139 1000000016 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant A861T; In dbSNP:rs45517537. VAR_055384 rs45517537 Y Y ECO:0000006 submission: UniProtKB AAP 5/1/2013 139 1000000017 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant C1047S; In dbSNP:rs13337489. VAR_055385 rs13337489 Y Y ECO:0000006 submission: UniProtKB AAP 5/1/2013 139 1000000018 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R1058Q; In dbSNP:rs41410450. VAR_013322 rs41410450 Y Y ECO:0000006 PubMed:11266082 UniProtKB AAP 5/1/2013 139 1000000019 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant V1146I; In dbSNP:rs28706727. VAR_055386 rs28706727 Y Y ECO:0000006 submission: UniProtKB AAP 5/1/2013 139 1000000020 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant S1512L; VAR_013323 Y Y ECO:0000006 PubMed:11139250 UniProtKB AAP 5/1/2013 139 1000000021 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site Q580A; No effect. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP 5/1/2013 139 1000000022 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site T581A; No effect. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP 5/1/2013 139 1000000023 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site S585A; No effect. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP 5/1/2013 139 1000000024 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site N597A; Increases resistance to vincristine and decreases resistance to VP-16. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP 5/1/2013 139 1000000025 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site S604A; Increases estradiol glucuronide transport. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP 5/1/2013 139 1000000026 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site S605A; Decreases resistance to vincristine, VP-16 and doxorubicin. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP 5/1/2013 139 1000000027 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site D792A; Only partially affects protein maturation; impairs leukotriene C4 transport. Y Y ECO:0000006 PubMed:11469806 UniProtKB AAP 5/1/2013 139 1000000028 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site D792L; Impairs protein maturation and leukotriene C4 transport. Y Y ECO:0000006 PubMed:11469806 UniProtKB AAP 5/1/2013 139 1000000029 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site D793L; No effect on protein maturation and leukotriene C4 transport. Y Y ECO:0000006 PubMed:11469806 UniProtKB AAP 5/1/2013 139 1000000030 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site R1046D; Slightly impairs leukotriene C4 and estradiol glucuronide transport. Y Y ECO:0000006 PubMed:15208328 UniProtKB AAP 5/1/2013 139 1000000031 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site D1084R; Impairs leukotriene C4 and estradiol glucuronide transport. Y Y ECO:0000006 PubMed:15208328 UniProtKB AAP 5/1/2013 139 1000000032 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site E1089{ALNQ}; Decreases resistance to anthracyclines. Y Y ECO:0000006 PubMed:11278596 UniProtKB AAP 5/1/2013 139 1000000033 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site E1089D; No effect. Y Y ECO:0000006 PubMed:11278596 UniProtKB AAP 5/1/2013 139 1000000034 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site E1089K; Abolishes resistance to anthracyclines. Y Y ECO:0000006 PubMed:11278596 UniProtKB AAP 5/1/2013 139 1000000035 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site R1131E; Slightly impairs leukotriene C4 and estradiol glucuronide transport. Y Y ECO:0000006 PubMed:15208328 UniProtKB AAP 5/1/2013 139 1000000036 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site R1138{EK}; Strongly reduced transport of leukotriene C4, estradiol glucuronide and of glutathione. Y Y ECO:0000006 PubMed:16230346 UniProtKB AAP 5/1/2013 139 1000000037 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site K1141E; Reduced transport of leukotriene C4 and of glutathione. Y Y ECO:0000006 PubMed:16230346 UniProtKB AAP 5/1/2013 139 1000000038 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site K1141R; Reduced transport of glutathione. Y Y ECO:0000006 PubMed:16230346 UniProtKB AAP 5/1/2013 139 1000000039 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site R1142{EK}; Reduced transport of leukotriene C4, estradiol glucuronide and of glutathione. Y Y ECO:0000006 PubMed:16230346 UniProtKB AAP 5/1/2013 139 1000000040 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site W1246{AFY}; Impairs estradiol glucuronide transport. Y Y ECO:0000006 PubMed:11278867 UniProtKB AAP 5/1/2013 139 1000000041 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site W1246C; Impairs estradiol glucuronide transport; loss of resistance to alkaloid vincristine, cationic anthracyclines, epipodophyllotoxin VP-16, but not potassium antimony tartrate; partial loss of resistance to sodium arsenite. Y Y ECO:0000006 PubMed:11278867 UniProtKB AAP 5/1/2013 139 1000000042 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site K1333L; Impairs leukotriene C4 transport. Y Y ECO:0000006 PubMed:11469806 UniProtKB AAP 5/1/2013 139 1000000043 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site DE1454-1455LL; Impairs leukotriene C4 transport. Y Y UniProtKB AAP 5/1/2013 139 1000000044 Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/alternative products/isoform O15439-1;1 Y Y UniProtKB AAP 5/1/2013 126 1000000045 Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/alternative products/isoform O15439-2;2 VSP_035426 Y Y UniProtKB AAP 5/1/2013 126 1000000046 Faith O15439 10257 ABCC4 Homo sapiens 9606 Comment/alternative products/isoform O15439-3;3 VSP_043283 VSP_043284 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 5/1/2013 126 1000000047 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant L18I; In dbSNP:rs11568681. VAR_046445 rs11568681 Y Y ECO:0000006 PubMed:9661885 PubMed:12105214 UniProtKB AAP 5/1/2013 126 1000000048 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant P78A; In dbSNP:rs11568689. VAR_029121 rs11568689 Y Y UniProtKB AAP 5/1/2013 126 1000000049 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant C171G; In dbSNP:rs4148460. VAR_046446 rs4148460 Y Y UniProtKB AAP 5/1/2013 126 1000000050 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant M184T; In dbSNP:rs45454092. VAR_020241 rs45454092 Y Y UniProtKB AAP 5/1/2013 126 1000000051 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant G187W; Transport properties comparable to wild-type; dbSNP:rs11568658. VAR_020242 rs11568658 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000052 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant K293E; In dbSNP:rs11568684. VAR_046447 rs11568684 Y Y UniProtKB AAP 5/1/2013 126 1000000053 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant K304N; Transport properties comparable to wild-type; dbSNP:rs2274407. VAR_022072 rs2274407 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000054 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant T356M; In dbSNP:rs11568701. VAR_046448 rs11568701 Y Y UniProtKB AAP 5/1/2013 126 1000000055 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant P403L; In dbSNP:rs11568705. VAR_029122 rs11568705 Y Y UniProtKB AAP 5/1/2013 126 1000000056 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant G487E; Transport properties comparable to wild-type; dbSNP:rs11568668. VAR_029123 rs11568668 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000057 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant K498E; In dbSNP:rs11568669. VAR_020243 rs11568669 Y Y UniProtKB AAP 5/1/2013 126 1000000058 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant Y556C; 40% reduced expression level compared to wild-type; higher transport of 9-(2-phosphonyl-methoxyethyl) adenine than wild-type. VAR_045684 Y Y ECO:0000006 PubMed:18300232 UniProtKB reduced expression level AAP 5/1/2013 126 1000000059 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant I625M; In dbSNP:rs11568699. VAR_029124 rs11568699 Y Y UniProtKB AAP 5/1/2013 126 1000000060 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant P667L; In dbSNP:rs11568697. VAR_029125 rs11568697 Y Y UniProtKB AAP 5/1/2013 126 1000000061 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant M744V; In dbSNP:rs9282570. VAR_020244 rs9282570 Y Y UniProtKB AAP 5/1/2013 126 1000000062 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant E757K; 10% reduced expression level compared to wild-type; transport properties comparable to wild-type; dbSNP:rs3765534. VAR_022073 rs3765534 Y Y ECO:0000006 PubMed:18300232 UniProtKB reduced expression level AAP 5/1/2013 126 1000000063 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant V776I; 20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type. VAR_045685 Y Y ECO:0000006 PubMed:18300232 UniProtKB reduced expression level AAP 5/1/2013 126 1000000064 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant R820I; Transport properties comparable to wild-type; dbSNP:rs11568659. VAR_045686 rs11568659 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000065 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant V854F; Transport properties comparable to wild-type. VAR_045687 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000066 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant V860M; In dbSNP:rs45477596. VAR_020245 rs45477596 Y Y UniProtKB AAP 5/1/2013 126 1000000067 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant I866V; Transport properties comparable to wild-type. VAR_045688 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000068 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant V900L; In dbSNP:rs45504892. VAR_020246 rs45504892 Y Y UniProtKB AAP 5/1/2013 126 1000000069 Faith O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant T1142M; 10% reduced expression level compared to wild-type; transport properties comparable to wild-type. VAR_029126 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000070 Rose O15439 10257 ABCC4 Homo sapiens 9606 Comment/alternative products/isoform O15439-1;Isoform 1 Y Y UniProtKB full length AAP 5/1/2013 126 1000000071 Rose O15439 10257 ABCC4 Homo sapiens 9606 Comment/alternative products/isoform O15439-2;Isoform 2 VSP_035426 Y Y UniProtKB AAP 5/1/2013 126 1000000072 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/splice variant O15439-2;Isoform 2;Position 679-725:Missing;In isoform 2. VSP_035426 Y Y UniProtKB AAP 5/1/2013 126 1000000073 Rose O15439 10257 ABCC4 Homo sapiens 9606 Comment/alternative products/isoform O15439-3;Isoform 3 VSP_043283 VSP_043284 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 5/1/2013 126 1000000074 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/splice variant O15439-3;Isoform 3;Position 846-859:TLLQVVGVVSVAVA->RWDLAVLSWLVSNS;In isoform 3. VSP_043283 Y N UniProtKB No experimental confirmation available. AAP 5/1/2013 126 1000000075 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/splice variant O15439-3;Isoform 3;Position 860-1325:Missing;In isoform 3. VSP_043284 Y N UniProtKB No experimental confirmation available. AAP 5/1/2013 126 1000000076 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant L18I; In dbSNP:rs11568681. VAR_046445 rs11568681 Y Y ECO:0000006 PubMed:9661885 PubMed:12105214 UniProtKB AAP 5/1/2013 126 1000000077 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant P78A; In dbSNP:rs11568689. VAR_029121 rs11568689 Y Y UniProtKB AAP 5/1/2013 126 1000000078 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant C171G; In dbSNP:rs4148460. VAR_046446 rs4148460 Y Y UniProtKB AAP 5/1/2013 126 1000000079 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant M184T; In dbSNP:rs45454092. VAR_020241 rs45454092 Y Y UniProtKB AAP 5/1/2013 126 1000000080 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant G187W; Transport properties comparable to wild-type; dbSNP:rs11568658. VAR_020242 rs11568658 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000081 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant K293E; In dbSNP:rs11568684. VAR_046447 rs11568684 Y Y UniProtKB AAP 5/1/2013 126 1000000082 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant K304N; Transport properties comparable to wild-type; dbSNP:rs2274407. VAR_022072 rs2274407 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000083 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant T356M; In dbSNP:rs11568701. VAR_046448 rs11568701 Y Y UniProtKB AAP 5/1/2013 126 1000000084 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant P403L; In dbSNP:rs11568705. VAR_029122 rs11568705 Y Y UniProtKB AAP 5/1/2013 126 1000000085 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant G487E; Transport properties comparable to wild-type; dbSNP:rs11568668. VAR_029123 rs11568668 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000086 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant K498E; In dbSNP:rs11568669. VAR_020243 rs11568669 Y Y UniProtKB AAP 5/1/2013 126 1000000087 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant Y556C; 40% reduced expression level compared to wild-type; higher transport of 9-(2-phosphonyl-methoxyethyl) adenine than wild-type. VAR_045684 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000088 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant I625M; In dbSNP:rs11568699. VAR_029124 rs11568699 Y Y UniProtKB AAP 5/1/2013 126 1000000089 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant P667L; In dbSNP:rs11568697. VAR_029125 rs11568697 Y Y UniProtKB AAP 5/1/2013 126 1000000090 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant M744V; In dbSNP:rs9282570. VAR_020244 rs9282570 Y Y UniProtKB AAP 5/1/2013 126 1000000091 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant E757K; 10% reduced expression level compared to wild-type; transport properties comparable to wild-type; dbSNP:rs3765534. VAR_022073 rs3765534 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000092 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant V776I; 20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type. VAR_045685 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000093 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant R820I; Transport properties comparable to wild-type; dbSNP:rs11568659. VAR_045686 rs11568659 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000094 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant V854F; Transport properties comparable to wild-type; dbSNP:rs11568694. VAR_045687 rs11568694 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000095 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant V860M; In dbSNP:rs45477596. VAR_020245 rs45477596 Y Y UniProtKB AAP 5/1/2013 126 1000000096 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant I866V; Transport properties comparable to wild-type; dbSNP:rs139970608. VAR_045688 rs139970608 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000097 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant V900L; In dbSNP:rs45504892. VAR_020246 rs45504892 Y Y UniProtKB AAP 5/1/2013 126 1000000098 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant T1142M; 10% reduced expression level compared to wild-type; transport properties comparable to wild-type; dbSNP:rs11568644. VAR_029126 rs11568644 Y Y ECO:0000006 PubMed:18300232 UniProtKB AAP 5/1/2013 126 1000000099 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant R477Q; In dbSNP:rs4494951. VAR_033459 rs4494951 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 109 1000000100 Rose Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/alternative products/isoform Q9H845-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 109 1000000101 Rose P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant A5P; In dbSNP:rs3741056. VAR_007496 rs3741056 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 141 1000000102 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant 85; In 3KTD. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007497 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 141 1000000103 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant A301P; In 3KTD; 5% normal activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007503 Y Y ECO:0000006 PubMed:7728148 UniProtKB AAP 11/28/2012 141 1000000104 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant A333P; In 3KTD; no activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007505 Y Y ECO:0000006 PubMed:9744475 UniProtKB AAP 11/28/2012 141 1000000105 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant A380T; In 3KTD; 7% normal activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007507 Y Y ECO:0000006 PubMed:1715688 UniProtKB AAP 11/28/2012 141 1000000106 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant G152A; In 3KTD. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007499 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 141 1000000107 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant G183R; In 3KTD; no activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007501 Y Y ECO:0000006 PubMed:1346617 UniProtKB AAP 11/28/2012 141 1000000108 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant G379V; In 3KTD. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007506 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 141 1000000109 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant I312T; In 3KTD; 10% activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007504 Y Y ECO:0000006 PubMed:9744475 UniProtKB AAP 11/28/2012 141 1000000110 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant N158D; In 3KTD; no activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007500 Y Y ECO:0000006 PubMed:7728148 UniProtKB AAP 11/28/2012 141 1000000111 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant N93S; In 3KTD; 10% activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007498 Y Y ECO:0000006 PubMed:9744475 UniProtKB AAP 11/28/2012 141 1000000112 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant T297M; In 3KTD; 10% normal activity. MIM:203750 beta-ketothiolase deficiency DOID:14723 VAR_007502 Y Y ECO:0000006 PubMed:7728148 UniProtKB AAP 11/28/2012 141 1000000113 Rose P24752 38 ACAT1 Homo sapiens 9606 Comment/alternative products/isoform P24752-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 141 1000000114 Faith Q86TX2 641371 ACOT1 Homo sapiens 9606 Feature/sequence variant R266H; In dbSNP:rs1049568. VAR_059830 rs1049568 Y Y UniProtKB AAP 5/1/2013 87 1000000115 Rose Q86TX2 641371 ACOT1 Homo sapiens 9606 Comment/alternative products/isoform Q86TX2-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 5/1/2013 87 1000000116 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-1;Isoform 1;BFIT1 skeletal muscle tissue UBERON:0001134 skeletal muscle BTO:0001103 Y Y UniProtKB full length AAP 5/1/2013 113 1000000117 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-1;Isoform 1;BFIT1 liver UBERON:0002107 liver BTO:0000759 Y Y UniProtKB full length AAP 5/1/2013 113 1000000118 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-1;Isoform 1;BFIT1 testis UBERON:0000473 testis BTO:0001363 Y Y UniProtKB full length AAP 5/1/2013 113 1000000119 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-1;Isoform 1;BFIT1 stomach UBERON:0000945 stomach BTO:0001307 Y Y UniProtKB full length AAP 5/1/2013 113 1000000120 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-1;Isoform 1;BFIT1 spleen UBERON:0002106 spleen BTO:0001281 Y Y UniProtKB full length AAP 5/1/2013 113 1000000121 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-1;Isoform 1;BFIT1 lung UBERON:0002048 lung BTO:0000763 Y Y UniProtKB full length AAP 5/1/2013 113 1000000122 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-1;Isoform 1;BFIT1 brain UBERON:0000955 brain BTO:0000142 Y Y UniProtKB full length AAP 5/1/2013 113 1000000123 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-2;Isoform 2;BFIT2 kidney UBERON:0002113 kidney BTO:0000671 VSP_000160 Y Y UniProtKB AAP 5/1/2013 113 1000000124 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-2;Isoform 2;BFIT2 uterus UBERON:0000995 uterus BTO:0001424 VSP_000160 Y Y UniProtKB AAP 5/1/2013 113 1000000125 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-2;Isoform 2;BFIT2 hibernoma hibernoma VSP_000160 Y Y UniProtKB AAP 5/1/2013 113 1000000126 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-2;Isoform 2;BFIT2 white adipose tissue UBERON:0001347 white adipose tissue BTO:0001456 VSP_000160 Y Y UniProtKB AAP 5/1/2013 113 1000000127 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Feature/splice variant Q8WXI4-2;Isoform 2;BFIT2;Position 544-607:CCWVRVSLTELVSASGFYSWGLESRSKGRRSDGWNGKLAGGHLSTLKAIPVAKINSRFGYLQDT->VSYYNQATPGVLNYVTTNVAGLSSEFYTTFKACEQFLLDNRNDLAPSLQTL;In isoform 2. VSP_000160 Y Y UniProtKB AAP 5/1/2013 113 1000000128 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Feature/sequence variant R11W; In dbSNP:rs34630746. VAR_048190 rs34630746 Y Y UniProtKB AAP 5/1/2013 113 1000000129 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Feature/sequence variant P165L; In dbSNP:rs2304306. VAR_022119 rs2304306 Y Y UniProtKB AAP 5/1/2013 113 1000000130 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Feature/sequence variant G202D; In dbSNP:rs1702003. VAR_022120 rs1702003 Y Y ECO:0000006 submission: UniProtKB AAP 5/1/2013 113 1000000131 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Feature/sequence variant M212I; In dbSNP:rs2304305. VAR_022121 rs2304305 Y Y UniProtKB AAP 5/1/2013 113 1000000132 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Feature/sequence variant R536H; In dbSNP:rs12403630. VAR_048191 rs12403630 Y Y UniProtKB AAP 5/1/2013 113 1000000133 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Comment/alternative products/isoform Q9NPJ3-1;Isoform 1 Y Y UniProtKB full length AAP 5/29/2013 101 1000000134 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Comment/alternative products/isoform Q9NPJ3-2;Isoform 2 VSP_046101 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 5/29/2013 101 1000000135 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/splice variant Q9NPJ3-2;Isoform 2;Position 1-26:MTSMTQSLREVIKAMTKARNFERVLG->MVR;In isoform 2. VSP_046101 Y N UniProtKB No experimental confirmation available. AAP 5/29/2013 101 1000000136 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site N50A; Reduced activity. Y Y ECO:0000006 PubMed:19170545 UniProtKB AAP 5/29/2013 101 1000000137 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site H56A; Decreases affinity for substrate. Y Y ECO:0000006 PubMed:19170545 UniProtKB AAP 5/29/2013 101 1000000138 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site D65A; Loss of activity. Y Y ECO:0000006 PubMed:16934754 PubMed:19170545 UniProtKB AAP 5/29/2013 101 1000000139 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site D65{EN}; Reduced activity. Y Y ECO:0000006 PubMed:16934754 PubMed:19170545 UniProtKB AAP 5/29/2013 101 1000000140 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site S83A; Reduced activity. Y Y ECO:0000006 PubMed:19170545 UniProtKB AAP 5/29/2013 101 1000000141 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/alternative products/isoform P49753-1;Isoform 1 Y Y UniProtKB full length AAP 5/29/2013 127 1000000142 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/alternative products/isoform P49753-2;Isoform 2 VSP_012225 VSP_012226 Y Y UniProtKB AAP 5/29/2013 127 1000000143 Faith P49753 10965 ACOT2 Homo sapiens 9606 Feature/splice variant P49753-2;Isoform 2;Position 1-20:Missing;In isoform 2. VSP_012225 Y Y UniProtKB AAP 5/29/2013 127 1000000144 Faith P49753 10965 ACOT2 Homo sapiens 9606 Feature/splice variant P49753-2;Isoform 2;Position 53-214:Missing;In isoform 2. VSP_012226 Y Y UniProtKB AAP 5/29/2013 127 1000000145 Faith P49753 10965 ACOT2 Homo sapiens 9606 Feature/sequence variant R16S; In dbSNP:rs11545741. VAR_057271 rs11545741 Y Y UniProtKB AAP 5/29/2013 127 1000000146 Faith P49753 10965 ACOT2 Homo sapiens 9606 Feature/sequence variant H475R; In dbSNP:rs7494. VAR_016136 rs7494 Y Y ECO:0000006 PubMed:10944470 PubMed:14702039 submission: PubMed:15489334 UniProtKB AAP 5/29/2013 127 1000000147 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Feature/sequence variant R57C; In dbSNP:rs3742819. VAR_052300 rs3742819 Y Y ECO:0000006 PubMed:15489334 UniProtKB AAP 5/1/2013 92 1000000148 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Feature/sequence variant A187D; In dbSNP:rs35724886. VAR_052301 rs35724886 Y Y UniProtKB AAP 5/1/2013 92 1000000149 Rose Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/alternative products/isoform Q8N9L9-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 5/1/2013 92 1000000150 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-1;Isoform 1;HBACHb Y Y UniProtKB full length AAP 6/26/2013 124 1000000151 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-2;Isoform 2;hBACHa-X VSP_000152 VSP_000155 VSP_000156 Y Y UniProtKB AAP 6/26/2013 124 1000000152 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-2;Isoform 2;hBACHa-X;Position 1-57:MKLLARALRLCEFGRQASSRRLVAGQGCVGPRRGCCAPVQVVGPRADLPPCGACITG->MSGPDVETPSAIQIC;In isoform 2, isoform 3 and isoform 4. VSP_000152 Y Y UniProtKB AAP 6/26/2013 124 1000000153 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-2;Isoform 2;hBACHa-X;Position 287-288:GC->AP;In isoform 2. VSP_000155 Y Y UniProtKB AAP 6/26/2013 124 1000000154 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-2;Isoform 2;hBACHa-X;Position 289-380:Missing;In isoform 2. VSP_000156 Y Y UniProtKB AAP 6/26/2013 124 1000000155 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-3;Isoform 3;hBACHa-Xi VSP_000152 VSP_000154 Y Y UniProtKB AAP 6/26/2013 124 1000000156 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-3;Isoform 3;hBACHa-Xi;Position 1-57:MKLLARALRLCEFGRQASSRRLVAGQGCVGPRRGCCAPVQVVGPRADLPPCGACITG->MSGPDVETPSAIQIC;In isoform 2, isoform 3 and isoform 4. VSP_000152 Y Y UniProtKB AAP 6/26/2013 124 1000000157 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-3;Isoform 3;hBACHa-Xi;Position 287-380:GCVITISGRMTFTSNKSMEIEVLVDADPVVDSSQKRYRAASAFFTYVSLSQEGRSLPVPQLVPETEDEKKRFEEGKGRYLQMKAKRQGHAEPQP->AHVMPAGADHTAPSSSPSTGTKCSLLRHHHLGTHDLHEQ;In isoform 3. VSP_000154 Y Y UniProtKB AAP 6/26/2013 124 1000000158 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-4;Isoform 4;hBACHa brain UBERON:0000955 brain BTO:0000142 VSP_000152 Major isoform. Y Y UniProtKB Isoform 4 is expressed exclusively in brain. AAP 6/26/2013 124 1000000159 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-4;Isoform 4;hBACHa;Position 1-57:MKLLARALRLCEFGRQASSRRLVAGQGCVGPRRGCCAPVQVVGPRADLPPCGACITG->MSGPDVETPSAIQIC;In isoform 2, isoform 3 and isoform 4. VSP_000152 Y Y UniProtKB Major isoform. AAP 6/26/2013 124 1000000160 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-5;Isoform 5;hBACHc VSP_000151 Y Y UniProtKB AAP 6/26/2013 124 1000000161 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-5;Isoform 5;hBACHc;Position 1-58:MKLLARALRLCEFGRQASSRRLVAGQGCVGPRRGCCAPVQVVGPRADLPPCGACITGR->MLLLRRSLSLNVLRKEVDRACFGEKAKQ;In isoform 5. VSP_000151 Y Y UniProtKB AAP 6/26/2013 124 1000000162 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-6;Isoform 6;hBACHd VSP_000153 Y Y UniProtKB AAP 6/26/2013 124 1000000163 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-6;Isoform 6;hBACHd;Position 1-57:MKLLARALRLCEFGRQASSRRLVAGQGCVGPRRGCCAPVQVVGPRADLPPCGACITG->MAFQLS;In isoform 6. VSP_000153 Y Y UniProtKB AAP 6/26/2013 124 1000000164 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-7;Isoform 7 VSP_047094 Y Y UniProtKB AAP 6/26/2013 124 1000000165 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-7;Isoform 7;Position 1-57:MKLLARALRLCEFGRQASSRRLVAGQGCVGPRRGCCAPVQVVGPRADLPPCGACITG->MARPGLIHSAPGLPDTCALLQPPAASAAAAPSMSGPDVETPSAIQIC;In isoform 7. VSP_047094 Y Y UniProtKB AAP 6/26/2013 124 1000000166 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/alternative products/isoform P33121-2;Isoform 2 VSP_009604 May be due to a competing acceptor splice site. No experimental confirmation available. Y N ECO:0000311 UniProtKB Reviewed by Rose AAP 1/9/2013 123 1000000167 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/alternative products/isoform P33121-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 1/9/2013 123 1000000168 Faith/Rose P33121 2180 ACSL1 Homo sapiens Comment/alternative products/isoform P33121-2;Isoform 2 VSP_009604 May be due to a competing acceptor splice site. No experimental confirmation available. Y N UniProtKB AAP 1/9/2013 123 1000000169 Faith/Rose P33121 2180 ACSL1 Homo sapiens 9606 Feature/splice variant P33121-2;Isoform 2;Position 508-517:Missing;In isoform 2. VSP_009604 Y N UniProtKB No experimental confirmation available. AAP 1/9/2013 123 1000000170 Mike O95573 2181 ACSL3 Homo sapiens 9606 Feature/sequence variant F551S; In dbSNP:rs1046032. VAR_026716 rs1046032 Y Y ECO:0000006 PubMed:9177793 PubMed:11707336 UniProtKB AAP 1/9/2013 115 1000000171 Rose O95573 2181 ACSL3 Homo sapiens 9606 Comment/alternative products/isoform O95573-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 115 1000000172 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/alternative products/isoform O60488-1;Isoform Long Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 131 1000000173 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/alternative products/isoform O60488-2;Isoform Short VSP_000238 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 131 1000000174 Mike O60488 2182 ACSL4 Homo sapiens 9606 Feature/sequence variant R133C; In a colorectal cancer sample; somatic mutation. colorectal cancer DOID:9256 VAR_036376 Y Y ECO:0000006 PubMed:16959974 UniProtKB AAP 11/28/2012 131 1000000175 Mike O60488 2182 ACSL4 Homo sapiens 9606 Feature/sequence variant R570S; In MRX63. MIM:300387 intellectual disability DOID:1059 VAR_013180 Y Y ECO:0000006 PubMed:11889465 UniProtKB AAP 11/28/2012 131 1000000176 Faith O60488 2182 ACSL4 Homo sapiens 9606 Feature/splice variant O60488-2;Isoform Short;Position 1-41:Missing;In isoform Short. VSP_000238 Y Y UniProtKB AAP 11/28/2012 131 1000000177 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/alternative products/isoform Q9ULC5-1;Isoform 1;ACSL5-fl Localize in mitochondrion and endoplasmic reticulum. Y Y ECO:0000311 UniProtKB full length; subcellular localization AAP 11/28/2012 121 1000000178 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/alternative products/isoform Q9ULC5-4;Isoform 3;ACSL5delta20 VSP_038233 Localize in mitochondrion and endoplasmic reticulum. Y Y ECO:0000311 UniProtKB subcellular localization AAP 11/28/2012 121 1000000179 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/alternative products/isoform Q9ULC5-3;Isoform 2;ACSL5a VSP_037947 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 1000000180 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Feature/sequence variant T486A; In dbSNP:rs12254915. VAR_048240 rs12254915 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 1000000181 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Feature/sequence variant M182V; In dbSNP:rs3736946. VAR_022117 rs3736946 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 1000000182 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Feature/sequence variant G466D; In a colorectal cancer sample; somatic mutation. colorectal cancer DOID:9256 VAR_036378 Y Y ECO:0000006 PubMed:16959974 UniProtKB AAP 11/28/2012 121 1000000183 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Feature/sequence variant K388R; In a colorectal cancer sample; somatic mutation. colorectal cancer DOID:9256 VAR_036377 Y Y ECO:0000006 PubMed:16959974 UniProtKB AAP 11/28/2012 121 1000000184 Faith Q9ULC5 51703 ACSL5 Homo sapiens 9606 Feature/splice variant Q9ULC5-3;Isoform 2;ACSL5a;Position 1:M->MDALKPPCLWRNHERGKKDRDSCGRKNSEPGSPHSLEALRDAAPSQGLNFLLLFTKM;In isoform 2. VSP_037947 Y Y UniProtKB AAP 11/28/2012 121 1000000185 Faith Q9ULC5 51703 ACSL5 Homo sapiens 9606 Feature/splice variant Q9ULC5-4;Isoform 3;ACSL5delta20;Position 614-637:Missing;In isoform 3. VSP_038233 Y Y UniProtKB AAP 11/28/2012 121 1000000186 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/alternative products/isoform O15120-2;Isoform 2 VSP_005071 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 1/9/2013 119 1000000187 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/alternative products/isoform O15120-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 1/9/2013 119 1000000188 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Feature/sequence variant 140; In CGL1. MIM:608594 congenital generalized lipodystrophy DOID:0050585 VAR_017326 Y Y ECO:0000006 PubMed:11967537 UniProtKB AAP 1/9/2013 119 1000000189 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Feature/sequence variant A239V; In CGL1. MIM:608594 congenital generalized lipodystrophy DOID:0050585 VAR_017325 Y Y ECO:0000006 PubMed:11967537 UniProtKB AAP 1/9/2013 119 1000000190 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Feature/sequence variant G136R; In CGL1. MIM:608594 congenital generalized lipodystrophy DOID:0050585 VAR_017328 Y Y ECO:0000006 PubMed:11967537 UniProtKB AAP 1/9/2013 119 1000000191 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Feature/sequence variant L228P; In CGL1. MIM:608594 congenital generalized lipodystrophy DOID:0050585 VAR_017327 Y Y ECO:0000006 PubMed:11967537 UniProtKB AAP 1/9/2013 119 1000000192 Rose O15120 10555 AGPAT2 Homo sapiens 9606 Feature/splice variant O15120-2;Isoform 2;Position 165-196:Missing;In isoform 2. VSP_005071 Y N UniProtKB No experimental confirmation available. AAP 1/9/2013 119 1000000193 Katie Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Feature/sequence variant Y77C; In dbSNP:rs17077958. VAR_022696 rs17077958 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 97 1000000194 Rose Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Comment/alternative products/isoform Q9NUQ2-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 97 1000000195 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/mutagenesis site D44N; Reduced enzymatic activity. Y Y ECO:0000006 PubMed:8245005 UniProtKB AAP 11/28/2012 157 1000000196 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/mutagenesis site H111N; Reduced enzymatic activity. Y Y ECO:0000006 PubMed:8245005 UniProtKB AAP 11/28/2012 157 1000000197 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/mutagenesis site K78M; Reduced enzymatic activity. Y Y ECO:0000006 PubMed:8245005 UniProtKB AAP 11/28/2012 157 1000000198 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/mutagenesis site Y49F; Complete loss of enzymatic activity. Y Y ECO:0000006 PubMed:8245005 UniProtKB AAP 11/28/2012 157 1000000199 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/sequence variant K90E; In dbSNP:rs2229542. VAR_048213 rs2229542 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 157 1000000200 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/sequence variant I15F; In dbSNP:rs5054. VAR_014743 rs5054 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 157 1000000201 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/sequence variant H42L; In dbSNP:rs5056. VAR_014744 rs5056 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 157 1000000202 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/sequence variant L73V; In dbSNP:rs5057. VAR_014745 rs5057 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 157 1000000203 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/sequence variant G204S; In dbSNP:rs5061. VAR_014746 rs5061 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 157 1000000204 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/sequence variant T288I; In dbSNP:rs5062. VAR_014747 rs5062 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 157 1000000205 Rose P15121 231 AKR1B1 Homo sapiens 9606 Comment/alternative products/isoform P15121-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 157 1000000206 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/mutagenesis site K75E; No effect on 17beta-HSD activity. Y Y ECO:0000006 PubMed:9927279 UniProtKB AAP 2/6/2013 142 1000000207 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/sequence variant M175I; No effect on 17beta-HSD activity; dbSNP:rs1131132. VAR_013289 rs1131132 Y Y ECO:0000006 PubMed:7650035 PubMed:9927279 PubMed:8274401 UniProtKB AAP 2/6/2013 142 1000000208 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/sequence variant H5Q; In dbSNP:rs12529. VAR_013288 rs12529 Y Y ECO:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:8274401 PubMed:7626489 PubMed:7788527 UniProtKB AAP 2/6/2013 142 1000000209 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/sequence variant P180S; In dbSNP:rs34186955. VAR_032769 rs34186955 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 142 1000000210 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/sequence variant R170C; In dbSNP:rs35575889. VAR_032768 rs35575889 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 142 1000000211 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/sequence variant R66Q; In dbSNP:rs35961894. VAR_032767 rs35961894 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 142 1000000212 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/sequence variant E77G; In dbSNP:rs41306308. VAR_061001 rs41306308 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 142 1000000213 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/alternative products/isoform P42330-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 142 1000000214 Rose P18054 239 ALOX12 Homo sapiens 9606 Feature/sequence variant Q261R; In dbSNP:rs1126667. VAR_018743 rs1126667 Y Y ECO:0000006 PubMed:2217179 submission: PubMed:15489334 PubMed:15308583 UniProtKB AAP 1/9/2013 143 1000000215 Rose P18054 239 ALOX12 Homo sapiens 9606 Feature/sequence variant R430H; In dbSNP:rs11571342. VAR_018745 rs11571342 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 143 1000000216 Rose P18054 239 ALOX12 Homo sapiens 9606 Feature/sequence variant N322S; In dbSNP:rs434473. VAR_018744 rs434473 Y Y ECO:0000006 submission: PubMed:2377602 PubMed:2244907 UniProtKB AAP 1/9/2013 143 1000000217 Rose P18054 239 ALOX12 Homo sapiens 9606 Feature/sequence variant E259K; In dbSNP:rs4987104. VAR_030471 rs4987104 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 143 1000000218 Rose P18054 239 ALOX12 Homo sapiens 9606 Feature/sequence variant A298T; VAR_004279 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 143 1000000219 Rose P18054 239 ALOX12 Homo sapiens 9606 Comment/alternative products/isoform P18054-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 143 1000000220 Mike O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant G94S; In dbSNP:rs8077661. VAR_050000 rs8077661 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 116 1000000221 Mike O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant H578Q; In NCIE. MIM:242100 congenital ichthyosiform erythroderma DOID:1699 VAR_015174 Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 11/28/2012 116 1000000222 Mike O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant L426P; In NCIE. MIM:242100 congenital ichthyosiform erythroderma DOID:1699 VAR_015173 Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 11/28/2012 116 1000000223 Rose O75342 242 ALOX12B Homo sapiens 9606 Comment/alternative products/isoform O75342-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 116 1000000224 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/mutagenesis site M418V; Catalyzes 15- and 12-lipoxygenation. Y Y ECO:0000006 PubMed:1944593 UniProtKB AAP 11/28/2012 139 1000000225 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant N103K; In dbSNP:rs11568099. VAR_018747 rs11568099 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 139 1000000226 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant R205Q; In dbSNP:rs11568101. VAR_018748 rs11568101 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 139 1000000227 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant D90H; In dbSNP:rs11568142. VAR_018746 rs11568142 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 139 1000000228 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant A461P; In dbSNP:rs17852628. VAR_035038 rs17852628 Y Y ECO:0000006 PubMed:15489334 UniProtKB AAP 11/28/2012 139 1000000229 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant T560M; In dbSNP:rs34210653. VAR_035039 rs34210653 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 139 1000000230 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant V239M; In dbSNP:rs3892408. VAR_035037 rs3892408 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 139 1000000231 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant G102V; In dbSNP:rs41439950. VAR_035036 rs41439950 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 139 1000000232 Rose P16050 246 ALOX15 Homo sapiens 9606 Comment/alternative products/isoform P16050-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 139 1000000233 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/alternative products/isoform O15296-1;Isoform A Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 125 1000000234 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/alternative products/isoform O15296-2;Isoform B;15-LOX2sv-b VSP_003142 VSP_003143 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 1000000235 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/alternative products/isoform O15296-3;Isoform C;15-LOX2sv-c VSP_003144 VSP_003145 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 1000000236 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/alternative products/isoform O15296-4;Isoform D;15-LOX2sv-a VSP_003142 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 1000000237 Mike O15296 247 ALOX15B Homo sapiens 9606 Feature/sequence variant Q656R; In dbSNP:rs4792147. VAR_024524 rs4792147 Y Y ECO:0000006 PubMed:11839751 PubMed:9177185 PubMed:11350124 PubMed:15489334 UniProtKB AAP 11/28/2012 125 1000000238 Mike O15296 247 ALOX15B Homo sapiens 9606 Feature/sequence variant I676V; In dbSNP:rs7225107. VAR_024525 rs7225107 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 1000000239 Mike O15296 247 ALOX15B Homo sapiens 9606 Feature/sequence variant R486H; In dbSNP:rs9895916. VAR_061334 rs9895916 Y Y ECO:0000006 PubMed:11839751 UniProtKB AAP 11/28/2012 125 1000000240 Faith O15296 247 ALOX15B Homo sapiens 9606 Feature/splice variant O15296-2;Isoform B;15-LOX2sv-b;Position 401-429:Missing;In isoform B and isoform D. VSP_003142 Y Y UniProtKB AAP 11/28/2012 125 1000000241 Faith O15296 247 ALOX15B Homo sapiens 9606 Feature/splice variant O15296-2;Isoform B;15-LOX2sv-b;Position 483-527:Missing;In isoform B. VSP_003143 Y Y UniProtKB AAP 11/28/2012 125 1000000242 Faith O15296 247 ALOX15B Homo sapiens 9606 Feature/splice variant O15296-3;Isoform C;15-LOX2sv-c;Position 561-617:FDSCAWMPNLPPSMQLPPPTSKGLATCEGFIATLPPVNATCDVILALWLLSKEPGDQ->VRKGQRPRWQAGGDPAPQPHSALSAFSLTPVLGCPTCHPACSCHHPPPKAWQHARAS;In isoform C. VSP_003144 Y Y UniProtKB AAP 11/28/2012 125 1000000243 Faith O15296 247 ALOX15B Homo sapiens 9606 Feature/splice variant O15296-3;Isoform C;15-LOX2sv-c;Position 618-676:Missing;In isoform C. VSP_003145 Y Y UniProtKB AAP 11/28/2012 125 1000000244 Faith O15296 247 ALOX15B Homo sapiens 9606 Feature/splice variant O15296-4;Isoform D;15-LOX2sv-a;Position 401-429:Missing;In isoform B and isoform D. VSP_003142 Y Y UniProtKB AAP 11/28/2012 125 1000000245 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site D359N; No loss of activity. Y Y ECO:0000311 UniProtKB AAP 11/28/2012 143 1000000246 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site E377Q; No activity. Y Y ECO:0000006 PubMed:1540191 UniProtKB AAP 11/28/2012 143 1000000247 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H363{SN}; Still some substantial activity. Y Y ECO:0000006 PubMed:1939225 UniProtKB AAP 11/28/2012 143 1000000248 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H368{SNA}; No activity. Y Y ECO:0000006 PubMed:1939225 PubMed:1540191 UniProtKB AAP 11/28/2012 143 1000000249 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H373{SN}; No activity. Y Y ECO:0000006 PubMed:1939225 PubMed:1540191 UniProtKB AAP 11/28/2012 143 1000000250 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H391{SN}; Still some substantial activity. Y Y ECO:0000006 PubMed:1939225 PubMed:1540191 UniProtKB AAP 11/28/2012 143 1000000251 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H391A; No activity. Y Y ECO:0000006 PubMed:1939225 PubMed:1540191 UniProtKB AAP 11/28/2012 143 1000000252 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H400{SN}; Still some substantial activity. Y Y ECO:0000006 PubMed:1939225 PubMed:1540191 UniProtKB AAP 11/28/2012 143 1000000253 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H400A; No activity. Y Y ECO:0000006 PubMed:1939225 PubMed:1540191 UniProtKB AAP 11/28/2012 143 1000000254 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H433{NA}; Almost no loss of activity. Y Y ECO:0000311 UniProtKB AAP 11/28/2012 143 1000000255 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H551{NA}; No activity. Y Y ECO:0000006 PubMed:1540191 UniProtKB AAP 11/28/2012 143 1000000256 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site S272A; Loss of phosphorylation site. Permits export from the nucleus. Y Y ECO:0000006 PubMed:18978352 UniProtKB AAP 11/28/2012 143 1000000257 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site S524A; Prevents phosphorylation by PKA. Y Y ECO:0000006 PubMed:15280375 UniProtKB AAP 11/28/2012 143 1000000258 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/sequence variant E254K; In dbSNP:rs2228065. VAR_028018 rs2228065 Y Y ECO:0000006 PubMed:15308583 UniProtKB AAP 11/28/2012 143 1000000259 Rose P09917 240 ALOX5 Homo sapiens 9606 Comment/alternative products/isoform P09917-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 143 1000000260 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site A27V; Strongly decreased affinity for the inhibitor MK-591. Y Y ECO:0000006 PubMed:17600184 UniProtKB AAP 11/28/2012 113 1000000261 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site D62A; Decreased affinity for the inhibitor MK-591. Y Y ECO:0000006 PubMed:17600184 UniProtKB AAP 11/28/2012 113 1000000262 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site F123A; Decreased affinity for the inhibitor MK-591. Y Y ECO:0000006 PubMed:17600184 UniProtKB AAP 11/28/2012 113 1000000263 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site I113A; Increased affinity for the inhibitor MK-591. Y Y ECO:0000006 PubMed:17600184 UniProtKB AAP 11/28/2012 113 1000000264 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site K116A; Strongly increased affinity for the inhibitor MK-591. Y Y ECO:0000006 PubMed:17600184 UniProtKB AAP 11/28/2012 113 1000000265 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site T66A; Strongly decreased affinity for the inhibitor MK-591. Y Y ECO:0000006 PubMed:17600184 UniProtKB AAP 11/28/2012 113 1000000266 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site V20A; Increased affinity for the inhibitor MK-591. Y Y ECO:0000006 PubMed:17600184 UniProtKB AAP 11/28/2012 113 1000000267 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site V30A; Strongly decreased affinity for the inhibitor MK-591. Y Y ECO:0000006 PubMed:17600184 UniProtKB AAP 11/28/2012 113 1000000268 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site Y112A; Strongly decreased affinity for the inhibitor MK-591. Y Y ECO:0000006 PubMed:17600184 UniProtKB AAP 11/28/2012 113 1000000269 Rose P20292 241 ALOX5AP Homo sapiens 9606 Comment/alternative products/isoform P20292-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 113 1000000270 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/alternative products/isoform Q9BYJ1-2;Isoform 2 VSP_043287 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 11/28/2012 104 1000000271 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/alternative products/isoform Q9BYJ1-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 104 1000000272 Katie/Rose Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/sequence variant R396S; In NCIE. MIM:242100 congenital ichthyosiform erythroderma DOID:1699 VAR_015175 Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 11/28/2012 104 1000000273 Katie/Rose Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/sequence variant V500F; In NCIE. MIM:242100 congenital ichthyosiform erythroderma DOID:1699 VAR_015176 Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 11/28/2012 104 1000000274 Faith/Rose Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/splice variant Q9BYJ1-2;Isoform 2;Position 1:M->MPRGAFRPCLPALYFAFLTCPTPEQRMSGTQAPDIHLGEPARGTGCVRGKQTSIRVQDCGRREEARAASRELRREKAQEHPRESWAHPQPYPAPQPLALRPETQPCPACRSSPPGRLLLRPALPGHPFLLPIM;In isoform 2. VSP_043287 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 104 1000000275 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/sequence variant R20Q; In dbSNP:rs1572983. VAR_052303 rs1572983 Y Y ECO:0000006 submission: submission: PubMed:15489334 UniProtKB AAP 5/1/2013 102 1000000276 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/sequence variant M76V; In FHCA; dbSNP:rs28937579. VAR_023737 rs28937579 Y Y ECO:0000006 PubMed:12704386 UniProtKB AAP 5/1/2013 102 1000000277 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site C235A; Abolishes activity. Y Y ECO:0000006 PubMed:12810727 PubMed:12239217 UniProtKB AAP 5/1/2013 102 1000000278 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site C235S; Lowers N-acyltransferase activity; enhanced thioesterase activity presumably dependent on the formation of a bile acid-enzyme covalent intermediate via a thioester bond. Y Y ECO:0000006 PubMed:12810727 PubMed:12239217 UniProtKB AAP 5/1/2013 102 1000000279 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site D328A; Abolishes activity. Y Y ECO:0000006 PubMed:12810727 PubMed:12239217 UniProtKB AAP 5/1/2013 102 1000000280 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site H362A; Abolishes activity. Y Y ECO:0000006 PubMed:12810727 PubMed:12239217 UniProtKB AAP 5/1/2013 102 1000000281 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site C372A; Retains activity. Y Y UniProtKB AAP 5/1/2013 102 1000000282 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site Q417K; Translocation to peroxisomes. Y Y ECO:0000006 PubMed:12810727 UniProtKB AAP 5/1/2013 102 1000000283 Rose Q14032 570 BAAT Homo sapiens 9606 Comment/alternative products/isoform Q14032-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 5/1/2013 102 1000000284 Mike P16152 873 CBR1 Homo sapiens 9606 Feature/sequence variant V88I; Reduced affinity for NADPH and reduced activity towards daunorubicin and prostaglandin E2; dbSNP:rs1143663. VAR_059053 rs1143663 Y Y ECO:0000006 PubMed:17344335 UniProtKB AAP 11/28/2012 147 1000000285 Mike P16152 873 CBR1 Homo sapiens 9606 Feature/sequence variant P131S; In dbSNP:rs41557318. VAR_031706 rs41557318 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 147 1000000286 Rose P16152 873 CBR1 Homo sapiens 9606 Comment/alternative products/isoform P16152-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 147 1000000287 Mike O75828 874 CBR3 Homo sapiens 9606 Feature/sequence variant V244M; Increased catalytic activity; dbSNP:rs1056892. VAR_033873 rs1056892 Y Y ECO:0000006 PubMed:15537833 submission: UniProtKB AAP 11/28/2012 115 1000000288 Mike O75828 874 CBR3 Homo sapiens 9606 Feature/sequence variant P131S; In dbSNP:rs16993929. VAR_033871 rs16993929 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 115 1000000289 Mike O75828 874 CBR3 Homo sapiens 9606 Feature/sequence variant V93I; In dbSNP:rs2835285. VAR_033870 rs2835285 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 115 1000000290 Mike O75828 874 CBR3 Homo sapiens 9606 Feature/sequence variant M235L; In dbSNP:rs4987121. VAR_033872 rs4987121 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 115 1000000291 Mike O75828 874 CBR3 Homo sapiens 9606 Feature/sequence variant C4Y; In dbSNP:rs8133052. VAR_033868 rs8133052 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 115 1000000292 Mike O75828 874 CBR3 Homo sapiens 9606 Feature/sequence variant L84V; In dbSNP:rs9282628. VAR_033869 rs9282628 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 115 1000000293 Rose O75828 874 CBR3 Homo sapiens 9606 Comment/alternative products/isoform O75828-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 115 1000000294 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant I462V; In allele CYP1A1*2B and allele CYP1A1*2C; dbSNP:rs1048943. VAR_001243 rs1048943 Y Y ECO:0000006 PubMed:15643613 PubMed:1722803 UniProtKB AAP 1/9/2013 152 1000000295 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant I78T; In dbSNP:rs17861094. VAR_023195 rs17861094 Y Y ECO:0000006 PubMed:15469410 PubMed:15643613 UniProtKB AAP 1/9/2013 152 1000000296 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant T461N; In allele CYP1A1*4; dbSNP:rs1799814. VAR_008342 rs1799814 Y Y ECO:0000006 PubMed:15469410 PubMed:15643613 PubMed:8895751 UniProtKB AAP 1/9/2013 152 1000000297 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant R93W; In dbSNP:rs2229150. VAR_024706 rs2229150 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 1/9/2013 152 1000000298 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant T173R; In dbSNP:rs28399427. VAR_024707 rs28399427 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 1/9/2013 152 1000000299 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant V482M; In dbSNP:rs28399429. VAR_024708 rs28399429 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 1/9/2013 152 1000000300 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant P492R; In allele CYP1A1*11; dbSNP:rs28399430. VAR_016942 rs28399430 Y Y ECO:0000006 PubMed:15469410 PubMed:15618738 UniProtKB AAP 1/9/2013 152 1000000301 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant R279W; In dbSNP:rs34260157. VAR_009280 rs34260157 Y Y ECO:0000006 PubMed:10739168 UniProtKB AAP 1/9/2013 152 1000000302 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant M66V; In dbSNP:rs35035798. VAR_033817 rs35035798 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 1000000303 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant F470V; In dbSNP:rs36121583. VAR_033818 rs36121583 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 1000000304 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant R464S; In allele CYP1A1*5; dbSNP:rs41279188. VAR_016940 rs41279188 Y Y ECO:0000006 PubMed:11295847 UniProtKB AAP 1/9/2013 152 1000000305 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant G45D; In dbSNP:rs4646422. VAR_023194 rs4646422 Y Y ECO:0000006 submission: PubMed:15469410 PubMed:15643613 UniProtKB AAP 1/9/2013 152 1000000306 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant I286T; In dbSNP:rs4987133. VAR_020122 rs4987133 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 1000000307 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant R477W; In allele CYP1A1*10; dbSNP:rs56240201. VAR_016941 rs56240201 Y Y ECO:0000006 PubMed:15618738 PubMed:16959974 UniProtKB AAP 1/9/2013 152 1000000308 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant M331I; In allele CYP1A1*6; dbSNP:rs56313657. VAR_016937 rs56313657 Y Y ECO:0000006 PubMed:11295847 UniProtKB AAP 1/9/2013 152 1000000309 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant I448N; In allele CYP1A1*8. VAR_016938 Y Y ECO:0000006 PubMed:15618738 UniProtKB AAP 1/9/2013 152 1000000310 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant R464C; In allele CYP1A1*9. VAR_016939 Y Y ECO:0000006 PubMed:15618738 UniProtKB AAP 1/9/2013 152 1000000311 Rose P04798 1543 CYP1A1 Homo sapiens 9606 Comment/alternative products/isoform P04798-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 152 1000000312 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/alternative products/isoform P05177-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 140 1000000313 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/alternative products/isoform P05177-2;Isoform 2 VSP_017123 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 1000000314 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/polymorphism The CYP1A2*1F allele which is quite common (40 to 50%) is due to a substitution of a base in the non-coding region of the CYP1A2 gene and has the effect of decreasing the enzyme inducibility. Individuals who are homozygous for the CYP1A2*1F allele are 'slow' caffeine metabolizers. Thus for these individual increased intake of caffeine seems to be associated with a concomitant increase in the risk of non-fatal myocardial infraction (MI). myocardial infarction DOID:5844 Y Y ECO:0000311 UniProtKB leaving this intact to show the original annotation AAP 11/28/2012 140 1000000315 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant S18C; In dbSNP:rs17861152. VAR_023196 rs17861152 Y Y ECO:0000006 PubMed:15469410 PubMed:15643613 UniProtKB AAP 11/28/2012 140 1000000316 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant S298R; In dbSNP:rs17861157. VAR_024709 rs17861157 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 11/28/2012 140 1000000317 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant I314V; In dbSNP:rs28399418. VAR_024710 rs28399418 Y Y ECO:0000006 PubMed:15469410 submission: UniProtKB AAP 11/28/2012 140 1000000318 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant R431W; In allele CYP1A2*6; not detected when expressed in heterologous system as it may be critical for maintenance of protein tertiary structure; dbSNP:rs28399424. VAR_020796 rs28399424 Y Y ECO:0000006 PubMed:14725854 PubMed:15469410 PubMed:11295848 UniProtKB AAP 11/28/2012 140 1000000319 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant D104N; In dbSNP:rs34067076. VAR_025184 rs34067076 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 140 1000000320 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant R457W; In dbSNP:rs34151816. VAR_055563 rs34151816 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 1000000321 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant G299S; In allele CYP1A2*13; dbSNP:rs35796837. VAR_020852 rs35796837 Y Y ECO:0000006 PubMed:14563787 UniProtKB AAP 11/28/2012 140 1000000322 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant L111F; In dbSNP:rs45442197. VAR_025185 rs45442197 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 140 1000000323 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant R281W; In dbSNP:rs45468096. VAR_025187 rs45468096 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 140 1000000324 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant T438I; In allele CYP1A2*14; dbSNP:rs45486893. VAR_020853 rs45486893 Y Y ECO:0000006 submission: PubMed:14563787 UniProtKB AAP 11/28/2012 140 1000000325 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant F205V; In dbSNP:rs45540640. VAR_025186 rs45540640 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 140 1000000326 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant G73R; In dbSNP:rs45565238. VAR_025183 rs45565238 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 140 1000000327 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant C406Y; In allele CYP1A2*5; increases N-hydroxylation activity of heterocyclic amines; reduces catalytic efficiency of phenacetin O-deethylation; dbSNP:rs55889066. VAR_020795 rs55889066 Y Y ECO:0000006 PubMed:14725854 PubMed:11295848 UniProtKB AAP 11/28/2012 140 1000000328 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant F21L; In allele CYP1A2*2; dbSNP:rs56160784. VAR_008349 rs56160784 Y Y ECO:0000006 PubMed:9884316 UniProtKB AAP 11/28/2012 140 1000000329 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant D348N; In allele CYP1A2*3; increases N-hydroxylation activity of heterocyclic amines; reduces phenacetin O-deethylation activity; dbSNP:rs56276455. VAR_020793 rs56276455 Y Y ECO:0000006 PubMed:14725854 PubMed:11295848 UniProtKB AAP 11/28/2012 140 1000000330 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant E168Q; In allele CYP1A2*10. VAR_020849 Y Y ECO:0000006 PubMed:14563787 UniProtKB AAP 11/28/2012 140 1000000331 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant F186L; In allele CYP1A2*11; drastic reduction in O-deethylation of phenacetin and 7-ethoxyresorufin; has a Vmax of approximately 5% of that of the wild-type and 5-fold lower Km value. VAR_020850 Y Y ECO:0000006 PubMed:14563787 UniProtKB AAP 11/28/2012 140 1000000332 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant I386F; In allele CYP1A2*4; increases catalytic efficiency of N-hydroxylation towards some heterocyclic amines and reduces towards others; reduces catalytic efficiency of phenacetin O-deethylation due to a high decrease in the affinity for phenacetin. VAR_020794 Y Y ECO:0000006 PubMed:14725854 PubMed:11295848 UniProtKB AAP 11/28/2012 140 1000000333 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant P42R; In allele CYP1A2*15. VAR_025182 Y Y ECO:0000006 PubMed:15770072 UniProtKB AAP 11/28/2012 140 1000000334 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant R377Q; In allele CYP1A2*16. VAR_025188 Y Y ECO:0000006 PubMed:15770072 UniProtKB AAP 11/28/2012 140 1000000335 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant R456H; In allele CYP1A2*8. VAR_025189 Y Y ECO:0000006 PubMed:15770072 UniProtKB AAP 11/28/2012 140 1000000336 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant S212C; In allele CYP1A2*12. VAR_020851 Y Y ECO:0000006 PubMed:14563787 UniProtKB AAP 11/28/2012 140 1000000337 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant T83M; In allele CYP1A2*9. VAR_020848 Y Y ECO:0000006 PubMed:14563787 UniProtKB AAP 11/28/2012 140 1000000338 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/splice variant P05177-2;Isoform 2;Position 510:R->RL;In isoform 2. VSP_017123 Y Y UniProtKB AAP 11/28/2012 140 1000000339 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R48G; In allele CYP1B1*2, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7; dbSNP:rs10012. VAR_011752 rs10012 Y Y ECO:0000006 PubMed:10655546 PubMed:11527932 PubMed:11980847 PubMed:12036985 PubMed:14635112 PubMed:12525557 PubMed:15342693 PubMed:15475877 PubMed:16688110 submission: submission: PubMed:11854439 UniProtKB AAP 11/28/2012 148 1000000340 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A119S; In allele CYP1B1*2, allele CYP1B1*6 and allele CYP1B1*7; significantly associated with breast or lung cancer; no significant change in 17beta-estradiol 2- and 4-hydroxylation activities and 17beta-estradiol affinity; 1.5-fold reduction in testosterone affinity but nearly no change in testosterone 6beta-hydroxylation activity; 2-fold increase in progesterone 6beta- and 16alpha-hydroxylation activities and 5-fold reduction in progesterone affinity; dbSNP:rs1056827. breast cancer DOID:1612 VAR_011753 rs1056827 Y Y ECO:0000006 PubMed:10426814 PubMed:10655546 PubMed:11527932 PubMed:12036985 PubMed:14635112 PubMed:12525557 PubMed:15475877 PubMed:16688110 submission: PubMed:11854439 PubMed:10739169 UniProtKB Variant has mixed effects on enzyme activity, did not change qualifier AAP 11/28/2012 148 1000000341 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A119S; In allele CYP1B1*2, allele CYP1B1*6 and allele CYP1B1*7; significantly associated with breast or lung cancer; no significant change in 17beta-estradiol 2- and 4-hydroxylation activities and 17beta-estradiol affinity; 1.5-fold reduction in testosterone affinity but nearly no change in testosterone 6beta-hydroxylation activity; 2-fold increase in progesterone 6beta- and 16alpha-hydroxylation activities and 5-fold reduction in progesterone affinity; dbSNP:rs1056827. lung cancer DOID:1324 VAR_011753 rs1056827 Y Y ECO:0000006 PubMed:10426814 PubMed:10655546 PubMed:11527932 PubMed:12036985 PubMed:14635112 PubMed:12525557 PubMed:15475877 PubMed:16688110 submission: PubMed:11854439 PubMed:10739169 UniProtKB Variant has mixed effects on enzyme activity, did not change qualifier AAP 11/28/2012 148 1000000342 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant L432V; In allele CYP1B1*3, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7; 1.6-fold increase in 17beta-estradiol 4-hydroxylation activity but no change in 17beta-estradiol 2-hydroxylation activity; 2-fold reduction in testosterone 6beta-hydroxylation activity and 3-fold reduction in testosterone affinity; 6-fold and 4-fold increase in progesterone 6beta- and 16alpha-hydroxylation activity, respectively and 7-fold reduction in progesterone affinity; dbSNP:rs1056836. VAR_001248 rs1056836 Y Y ECO:0000006 PubMed:10426814 PubMed:9497261 PubMed:10655546 PubMed:11527932 PubMed:11774072 PubMed:11980847 PubMed:12036985 PubMed:14635112 PubMed:12525557 PubMed:15342693 PubMed:15475877 PubMed:16688110 submission: PubMed:11854439 PubMed:10739169 PubMed:9823305 UniProtKB Normal -> decreased based on progesterone hydroxylation activity (larger magnitude of effect) AAP 11/28/2012 148 1000000343 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant D449E; In dbSNP:rs1056837. VAR_028738 rs1056837 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 1000000344 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant N453S; In allele CYP1B1*4; dbSNP:rs1800440. VAR_008355 rs1800440 Y Y ECO:0000006 PubMed:10655546 PubMed:12036985 PubMed:14635112 PubMed:12525557 PubMed:15342693 PubMed:15475877 PubMed:16688110 submission: PubMed:11854439 PubMed:9823305 submission: UniProtKB AAP 11/28/2012 148 1000000345 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant D374N; In GLC3A; dbSNP:rs28936413. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_001246 rs28936413 Y Y ECO:0000006 PubMed:9463332 PubMed:10655546 UniProtKB AAP 11/28/2012 148 1000000346 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R368H; In GLC3A and glaucoma; digenic early-onset; this mutation may act as a modifier of MYOC mutant phenotype; dbSNP:rs28936414. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_016034 rs28936414 Y Y ECO:0000006 PubMed:10655546 PubMed:11774072 PubMed:11980847 PubMed:12036985 PubMed:15475877 PubMed:16490498 PubMed:16735994 PubMed:16688110 UniProtKB AAP 11/28/2012 148 1000000347 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G61E; In GLC3A and POAG; allele CYP1B1*12; reduces enzymatic activity; dbSNP:rs28936700. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_001244 rs28936700 Y Y ECO:0000006 PubMed:9463332 PubMed:9497261 PubMed:10655546 PubMed:11980847 PubMed:16490498 PubMed:16735994 PubMed:18470941 PubMed:16862072 UniProtKB AAP 11/28/2012 148 1000000348 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G61E; In GLC3A and POAG; allele CYP1B1*12; reduces enzymatic activity; dbSNP:rs28936700. MIM:137760 primary open angle glaucoma DOID:1070 VAR_001244 rs28936700 Y Y ECO:0000006 PubMed:9463332 PubMed:9497261 PubMed:10655546 PubMed:11980847 PubMed:16490498 PubMed:16735994 PubMed:18470941 PubMed:16862072 UniProtKB AAP 11/28/2012 148 1000000349 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R469W; In GLC3A; allele CYP1B1*25; dbSNP:rs28936701. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_001247 rs28936701 Y Y ECO:0000006 PubMed:9463332 PubMed:9497261 PubMed:10655546 PubMed:16735994 UniProtKB AAP 11/28/2012 148 1000000350 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant D441H; In dbSNP:rs4986887. VAR_028737 rs4986887 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 1000000351 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A443G; In GLC3A and POAG; allele CYP1B1*7; unproven pathogenicity; dbSNP:rs4986888. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_018774 rs4986888 Y Y ECO:0000006 PubMed:12036985 PubMed:15342693 PubMed:16862072 PubMed:11854439 UniProtKB AAP 11/28/2012 148 1000000352 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A443G; In GLC3A and POAG; allele CYP1B1*7; unproven pathogenicity; dbSNP:rs4986888. MIM:137760 primary open angle glaucoma DOID:1070 VAR_018774 rs4986888 Y Y ECO:0000006 PubMed:12036985 PubMed:15342693 PubMed:16862072 PubMed:11854439 UniProtKB AAP 11/28/2012 148 1000000353 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G365W; In GLC3A; allele CYP1B1*18; dbSNP:rs55771538. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_001245 rs55771538 Y Y ECO:0000006 PubMed:9497261 UniProtKB AAP 11/28/2012 148 1000000354 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant E387K; In GLC3A and POAG; allele CYP1B1*20; dbSNP:rs55989760. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_008352 rs55989760 Y Y ECO:0000006 PubMed:9497261 PubMed:10227395 PubMed:12036985 PubMed:14635112 PubMed:15342693 PubMed:16735994 UniProtKB AAP 11/28/2012 148 1000000355 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant E387K; In GLC3A and POAG; allele CYP1B1*20; dbSNP:rs55989760. MIM:137760 primary open angle glaucoma DOID:1070 VAR_008352 rs55989760 Y Y ECO:0000006 PubMed:9497261 PubMed:10227395 PubMed:12036985 PubMed:14635112 PubMed:15342693 PubMed:16735994 UniProtKB AAP 11/28/2012 148 1000000356 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R390H; In GLC3A; allele CYP1B1*21; dbSNP:rs56010818. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_008353 rs56010818 Y Y ECO:0000006 PubMed:9497261 PubMed:15342693 PubMed:15475877 UniProtKB AAP 11/28/2012 148 1000000357 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant P437L; In GLC3A; allele CYP1B1*23; dbSNP:rs56175199. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_008354 rs56175199 Y Y ECO:0000006 PubMed:9497261 PubMed:12036985 PubMed:15475877 UniProtKB AAP 11/28/2012 148 1000000358 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant P379L; In allele CYP1B1*19; dbSNP:rs56305281. VAR_008351 rs56305281 Y Y ECO:0000006 PubMed:9497261 UniProtKB AAP 11/28/2012 148 1000000359 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant E229K; In GLC3A and POAG; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs57865060. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054243 rs57865060 Y Y ECO:0000006 PubMed:11980847 PubMed:14635112 PubMed:15342693 PubMed:15475877 PubMed:16735994 PubMed:18470941 PubMed:16688110 PubMed:16862072 UniProtKB AAP 11/28/2012 148 1000000360 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant E229K; In GLC3A and POAG; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs57865060. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054243 rs57865060 Y Y ECO:0000006 PubMed:11980847 PubMed:14635112 PubMed:15342693 PubMed:15475877 PubMed:16735994 PubMed:18470941 PubMed:16688110 PubMed:16862072 UniProtKB AAP 11/28/2012 148 1000000361 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V198I; In GLC3A; dbSNP:rs59472972. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054240 rs59472972 Y Y ECO:0000006 PubMed:11527932 UniProtKB AAP 11/28/2012 148 1000000362 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Q68R; In dbSNP:rs9282670. VAR_028735 rs9282670 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 1000000363 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Y81N; In POAG; adult-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs9282671. MIM:137760 primary open angle glaucoma DOID:1070 VAR_028736 rs9282671 Y Y ECO:0000006 PubMed:15342693 PubMed:16735994 PubMed:18470941 PubMed:16862072 UniProtKB AAP 11/28/2012 148 1000000364 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S206N; In dbSNP:rs9341248. VAR_018869 rs9341248 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 148 1000000365 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R266L; In dbSNP:rs9341250. VAR_018870 rs9341250 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 148 1000000366 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant 269-271; In GLC3A and POAG. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054246 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 1000000367 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant 269-271; In GLC3A and POAG. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054246 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 1000000368 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant 355-358; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054252 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 1000000369 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant 343; In GLC3A; reduces enzymatic activity and also the abundance of the enzyme. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054250 Y Y ECO:0000006 PubMed:16735994 PubMed:18470941 UniProtKB AAP 11/28/2012 148 1000000370 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A115P; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054230 Y Y ECO:0000006 PubMed:15475877 UniProtKB AAP 11/28/2012 148 1000000371 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A189P; Associated with ocular hypertension susceptibility. ocular hypertension DOID:9282 VAR_054237 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 1000000372 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A330F; In GLC3A; requires 2 nucleotide substitutions; uncertain pathogenicity. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054248 Y Y ECO:0000006 PubMed:11527932 UniProtKB AAP 11/28/2012 148 1000000373 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A330S; Associated with ocular hypertension susceptibility. ocular hypertension DOID:9282 VAR_054249 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 1000000374 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A388T; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054254 Y Y ECO:0000006 PubMed:16490498 UniProtKB AAP 11/28/2012 148 1000000375 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant D192V; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054238 Y Y ECO:0000006 PubMed:11527932 UniProtKB AAP 11/28/2012 148 1000000376 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant D530G; In POAG. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054268 Y Y ECO:0000006 PubMed:16688110 UniProtKB AAP 11/28/2012 148 1000000377 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant E499G; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054264 Y Y ECO:0000006 PubMed:11527932 UniProtKB AAP 11/28/2012 148 1000000378 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant F445C; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054262 Y Y ECO:0000006 PubMed:14640115 UniProtKB AAP 11/28/2012 148 1000000379 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G184S; VAR_054236 Y Y ECO:0000006 PubMed:11980847 UniProtKB AAP 11/28/2012 148 1000000380 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G232R; In GLC3A and POAG; adult-onset. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054244 Y Y ECO:0000006 PubMed:14635112 PubMed:15342693 UniProtKB AAP 11/28/2012 148 1000000381 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G232R; In GLC3A and POAG; adult-onset. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054244 Y Y ECO:0000006 PubMed:14635112 PubMed:15342693 UniProtKB AAP 11/28/2012 148 1000000382 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G466D; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054263 Y Y ECO:0000006 PubMed:15475877 UniProtKB AAP 11/28/2012 148 1000000383 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant I399S; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054257 Y Y ECO:0000006 PubMed:14635112 UniProtKB AAP 11/28/2012 148 1000000384 Katie/Rose Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant L345F; In POAG. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054251 Y Y ECO:0000006 PubMed:11774072 UniProtKB AAP 11/28/2012 148 1000000385 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant L77P; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054229 Y Y ECO:0000006 PubMed:10655546 PubMed:15475877 UniProtKB AAP 11/28/2012 148 1000000386 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant M132R; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054231 Y Y ECO:0000006 PubMed:15475877 UniProtKB AAP 11/28/2012 148 1000000387 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant N203S; In GLC3A; reduces enzymatic activity. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054241 Y Y ECO:0000006 PubMed:18470941 UniProtKB AAP 11/28/2012 148 1000000388 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant N423Y; In GLC3A and POAG; juvenile-onset. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054260 Y Y ECO:0000006 PubMed:14635112 PubMed:15342693 UniProtKB AAP 11/28/2012 148 1000000389 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant N423Y; In GLC3A and POAG; juvenile-onset. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054260 Y Y ECO:0000006 PubMed:14635112 PubMed:15342693 UniProtKB AAP 11/28/2012 148 1000000390 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant P193L; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054239 Y Y ECO:0000006 PubMed:11980847 PubMed:15475877 UniProtKB AAP 11/28/2012 148 1000000391 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant P52L; VAR_054228 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 1000000392 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Q144H; VAR_054232 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 1000000393 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Q144P; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054233 Y Y ECO:0000006 PubMed:15475877 UniProtKB AAP 11/28/2012 148 1000000394 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Q144R; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054234 Y Y ECO:0000006 PubMed:14640115 UniProtKB AAP 11/28/2012 148 1000000395 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R145W; In POAG. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054235 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 1000000396 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R390C; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054255 Y Y ECO:0000006 PubMed:15475877 PubMed:15255109 UniProtKB AAP 11/28/2012 148 1000000397 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R390S; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054256 Y Y ECO:0000006 PubMed:10655546 PubMed:14635112 UniProtKB AAP 11/28/2012 148 1000000398 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R444Q; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054261 Y Y ECO:0000006 PubMed:11527932 UniProtKB AAP 11/28/2012 148 1000000399 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R523T; In POAG; juvenile-onset. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054267 Y Y ECO:0000006 PubMed:16688110 UniProtKB AAP 11/28/2012 148 1000000400 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S215I; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054242 Y Y ECO:0000006 PubMed:12525557 UniProtKB AAP 11/28/2012 148 1000000401 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S239R; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054245 Y Y ECO:0000006 PubMed:15475877 UniProtKB AAP 11/28/2012 148 1000000402 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S28W; In POAG. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054227 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 1000000403 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S515L; In POAG; uncertain pathogenicity. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054265 Y Y ECO:0000006 PubMed:16688110 UniProtKB AAP 11/28/2012 148 1000000404 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V320L; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054247 Y Y ECO:0000006 PubMed:11527932 UniProtKB AAP 11/28/2012 148 1000000405 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V364M; In GLC3A. MIM:231300 primary congenital glaucoma DOID:0050593 VAR_054253 Y Y ECO:0000006 PubMed:11184479 PubMed:11527932 PubMed:12525557 UniProtKB AAP 11/28/2012 148 1000000406 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V409F; In POAG. MIM:137760 primary open angle glaucoma DOID:1070 VAR_054258 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 1000000407 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V422G; VAR_054259 Y Y ECO:0000006 PubMed:16490498 UniProtKB AAP 11/28/2012 148 1000000408 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V518A; VAR_054266 Y Y ECO:0000006 PubMed:16688110 UniProtKB AAP 11/28/2012 148 1000000409 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant W57C; In POAG; juvenile onset; allele CYP1B1*11. MIM:137760 primary open angle glaucoma DOID:1070 VAR_008350 Y Y ECO:0000006 PubMed:9497261 PubMed:16688110 UniProtKB AAP 11/28/2012 148 1000000410 Rose Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/alternative products/isoform Q16678-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 148 1000000411 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant K262R; In allele CYP2B6*4, allele CYP2B6*6, allele CYP2B6*7 and allele CYP2B6*13; slight decrease in activity; dbSNP:rs2279343. VAR_016926 rs2279343 Y Y ECO:0000006 submission: PubMed:11470993 PubMed:12642465 PubMed:15469410 submission: UniProtKB AAP 11/28/2012 143 1000000412 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant I328T; In dbSNP:rs28399499. VAR_024716 rs28399499 Y Y ECO:0000006 submission: PubMed:15469410 UniProtKB AAP 11/28/2012 143 1000000413 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant R487C; In allele CYP2B6*5 and allele CYP2B6*7; dbSNP:rs3211371. VAR_016929 rs3211371 Y Y ECO:0000006 submission: PubMed:11470993 PubMed:12642465 PubMed:12721789 PubMed:14551287 PubMed:15469410 UniProtKB AAP 11/28/2012 143 1000000414 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant R29S; In dbSNP:rs33926104. VAR_025208 rs33926104 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 143 1000000415 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant T26S; In dbSNP:rs33973337. VAR_025206 rs33973337 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 143 1000000416 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant D28G; In dbSNP:rs33980385. VAR_025207 rs33980385 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 143 1000000417 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant N289K; In dbSNP:rs34277950. VAR_025209 rs34277950 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 143 1000000418 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant R29P; In dbSNP:rs34284776. VAR_033819 rs34284776 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 143 1000000419 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant T306S; In dbSNP:rs34698757. VAR_025210 rs34698757 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 143 1000000420 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant Q21L; In allele CYP2B6*10; dbSNP:rs34883432. VAR_023563 rs34883432 Y Y ECO:0000006 PubMed:15190123 UniProtKB AAP 11/28/2012 143 1000000421 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant M46V; In allele CYP2B6*11; dbSNP:rs35303484. VAR_023564 rs35303484 Y Y ECO:0000006 PubMed:15190123 UniProtKB AAP 11/28/2012 143 1000000422 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant R140Q; In allele CYP2B6*14; dbSNP:rs35773040. VAR_023566 rs35773040 Y Y ECO:0000006 PubMed:15190123 UniProtKB AAP 11/28/2012 143 1000000423 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant I391N; In allele CYP2B6*15; dbSNP:rs35979566. VAR_023567 rs35979566 Y Y ECO:0000006 PubMed:15190123 UniProtKB AAP 11/28/2012 143 1000000424 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant G99E; In allele CYP2B6*12; dbSNP:rs36060847. VAR_023565 rs36060847 Y Y ECO:0000006 PubMed:15190123 UniProtKB AAP 11/28/2012 143 1000000425 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant Q172H; In allele CYP2B6*6, allele CYP2B6*7, allele CYP2B6*9 and allele CYP2B6*13; dbSNP:rs3745274. VAR_016925 rs3745274 Y Y ECO:0000006 submission: PubMed:11470993 PubMed:12642465 PubMed:12721789 PubMed:14551287 PubMed:15469410 submission: PubMed:11243870 UniProtKB AAP 11/28/2012 143 1000000426 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant P167A; In dbSNP:rs3826711. VAR_016924 rs3826711 Y Y ECO:0000006 PubMed:12721789 submission: UniProtKB AAP 11/28/2012 143 1000000427 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant S259R; In allele CYP2B6*3; dbSNP:rs45482602. VAR_016928 rs45482602 Y Y ECO:0000006 PubMed:11470993 PubMed:12642465 UniProtKB AAP 11/28/2012 143 1000000428 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant R22C; In allele CYP2B6*2 and allele CYP2B6*10; dbSNP:rs8192709. VAR_016927 rs8192709 Y Y ECO:0000006 submission: PubMed:11470993 PubMed:12642465 PubMed:12721789 PubMed:14551287 PubMed:15469410 UniProtKB AAP 11/28/2012 143 1000000429 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant K139E; In allele CYP2B6*8 and allele CYP2B6*13. VAR_016948 Y Y ECO:0000006 PubMed:15190123 PubMed:14551287 UniProtKB AAP 11/28/2012 143 1000000430 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/alternative products/isoform P20813-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 143 1000000431 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Comment/alternative products/isoform P33260-2;Isoform 2 VSP_042520 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 11/28/2012 116 1000000432 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Comment/alternative products/isoform P33260-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 116 1000000433 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Feature/sequence variant T385M; In dbSNP:rs2281891. VAR_001254 rs2281891 Y Y ECO:0000006 PubMed:2009263 PubMed:8333835 UniProtKB AAP 11/28/2012 116 1000000434 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Feature/splice variant P33260-2;Isoform 2;Position 214-272:Missing;In isoform 2. VSP_042520 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 116 1000000435 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant E92D; In dbSNP:rs17878459. VAR_021270 rs17878459 Y Y ECO:0000006 submission: PubMed:9732415 UniProtKB AAP 11/28/2012 125 1000000436 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R410C; In allele CYP2C19*13; dbSNP:rs17879685. VAR_021274 rs17879685 Y Y ECO:0000006 PubMed:12464799 submission: UniProtKB AAP 11/28/2012 125 1000000437 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant I19L; In allele CYP2C19*15; dbSNP:rs17882687. VAR_021269 rs17882687 Y Y ECO:0000006 PubMed:12464799 submission: UniProtKB AAP 11/28/2012 125 1000000438 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R144H; In allele CYP2C19*9; dbSNP:rs17884712. VAR_021272 rs17884712 Y Y ECO:0000006 PubMed:12464799 submission: PubMed:15469410 UniProtKB AAP 11/28/2012 125 1000000439 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant E122A; In dbSNP:rs17885179. VAR_021271 rs17885179 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 125 1000000440 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant M74T; In dbSNP:rs28399505. VAR_024718 rs28399505 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 11/28/2012 125 1000000441 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant F168L; In dbSNP:rs28399510. VAR_024719 rs28399510 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 11/28/2012 125 1000000442 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant V331I; In allele CYP2C19*1A, allele CYP2C19*5A, allele CYP2C19*8 and allele CYP2C19*16; dbSNP:rs3758581. VAR_001255 rs3758581 Y Y ECO:0000006 submission: PubMed:16141610 PubMed:15469410 submission: UniProtKB AAP 11/28/2012 125 1000000443 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant W120R; In allele CYP2C19*8; loss of activity; dbSNP:rs41291556. VAR_008357 rs41291556 Y Y ECO:0000006 PubMed:10411572 UniProtKB AAP 11/28/2012 125 1000000444 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant L17P; In allele CYP2C19*14; dbSNP:rs55752064. VAR_021268 rs55752064 Y Y ECO:0000006 PubMed:12464799 UniProtKB AAP 11/28/2012 125 1000000445 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R433W; In allele CYP2C19*5A and allele CYP2C19*5B; loss of activity; dbSNP:rs56337013. VAR_008359 rs56337013 Y Y ECO:0000006 PubMed:9103550 PubMed:10022751 UniProtKB AAP 11/28/2012 125 1000000446 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R150H; In allele CYP2C19*11; dbSNP:rs58973490. VAR_021273 rs58973490 Y Y ECO:0000006 PubMed:12464799 UniProtKB AAP 11/28/2012 125 1000000447 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant P227L; In allele CYP2C19*10; dbSNP:rs6413438. VAR_020123 rs6413438 Y Y ECO:0000006 PubMed:12464799 UniProtKB AAP 11/28/2012 125 1000000448 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant A161P; VAR_024084 Y Y ECO:0000006 PubMed:16141610 UniProtKB AAP 11/28/2012 125 1000000449 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R132Q; In allele CYP2C19*6; loss of activity. VAR_008358 Y Y ECO:0000006 PubMed:9732415 UniProtKB AAP 11/28/2012 125 1000000450 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R329H; In allele CYP2C19*18. VAR_024085 Y Y ECO:0000006 PubMed:16141610 UniProtKB AAP 11/28/2012 125 1000000451 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R442C; In allele CYP2C19*16; lowered catalytic activity. VAR_021275 Y Y ECO:0000006 PubMed:15499191 UniProtKB AAP 11/28/2012 125 1000000452 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant S51G; In allele CYP2C19*19. VAR_024083 Y Y ECO:0000006 PubMed:16141610 UniProtKB AAP 11/28/2012 125 1000000453 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Comment/alternative products/isoform P33261-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 125 1000000454 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/alternative products/isoform P10632-2;Isoform 2 VSP_043306 VSP_043307 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 11/28/2012 150 1000000455 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Comment/alternative products/isoform P10632-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 150 1000000456 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant K399R; In allele CYP2C8*3; dbSNP:rs10509681. VAR_012240 rs10509681 Y Y ECO:0000006 PubMed:14702039 submission: PubMed:11668219 PubMed:12429347 PubMed:15469410 PubMed:2216732 UniProtKB AAP 11/28/2012 150 1000000457 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant I264M; In allele CYP2C8*4; dbSNP:rs1058930. VAR_011754 rs1058930 Y Y ECO:0000006 submission: PubMed:12429347 PubMed:15469410 PubMed:3500169 PubMed:2009263 UniProtKB AAP 11/28/2012 150 1000000458 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant R139K; In allele CYP2C8*3; dbSNP:rs11572080. VAR_012238 rs11572080 Y Y ECO:0000006 PubMed:14702039 submission: PubMed:2729895 PubMed:11668219 PubMed:12429347 PubMed:15469410 UniProtKB AAP 11/28/2012 150 1000000459 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant I244V; In dbSNP:rs11572102. VAR_018958 rs11572102 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 150 1000000460 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant I269F; In allele CYP2C8*2; only found in African-Americans; dbSNP:rs11572103. VAR_012239 rs11572103 Y Y ECO:0000006 submission: PubMed:11668219 PubMed:12429347 PubMed:15469410 UniProtKB AAP 11/28/2012 150 1000000461 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant E154D; In clone MP-12. VAR_001250 Y Y ECO:0000006 PubMed:3196692 UniProtKB AAP 11/28/2012 150 1000000462 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant H411L; In clone MP-20. VAR_001253 Y Y ECO:0000006 PubMed:7574697 PubMed:3196692 UniProtKB AAP 11/28/2012 150 1000000463 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant K249R; In clone MP-12. VAR_001252 Y Y ECO:0000006 PubMed:3196692 UniProtKB AAP 11/28/2012 150 1000000464 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant L390S; VAR_016947 Y Y ECO:0000006 PubMed:12429347 UniProtKB AAP 11/28/2012 150 1000000465 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant N193K; In MP-20. VAR_001251 Y Y ECO:0000006 PubMed:3196692 UniProtKB AAP 11/28/2012 150 1000000466 Rose P10632 1558 CYP2C8 Homo sapiens 9606 Feature/splice variant P10632-2;Isoform 2;Position 1-8:MEPFVVLV->MFLQPIAK;In isoform 2. VSP_043306 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 150 1000000467 Rose P10632 1558 CYP2C8 Homo sapiens 9606 Feature/splice variant P10632-2;Isoform 2;Position 9-110:Missing;In isoform 2. VSP_043307 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 150 1000000468 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant Y358C; In dbSNP:rs1057909. VAR_008344 rs1057909 Y Y ECO:0000006 PubMed:9110362 PubMed:3032244 PubMed:3196692 UniProtKB AAP 1/9/2013 152 1000000469 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant I359L; In allele CYP2C9*3; responsible for the tolbutamide poor metabolizer phenotype; dbSNP:rs1057910. tolbutamide CHEBI:27999 VAR_008345 rs1057910 Y Y ECO:0000006 submission: PubMed:8946475 PubMed:9110362 PubMed:15469410 UniProtKB AAP 1/9/2013 152 1000000470 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant R144C; In allele CYP2C9*2; dbSNP:rs1799853. VAR_008343 rs1799853 Y Y ECO:0000006 PubMed:2827463 PubMed:3697070 submission: PubMed:8946475 PubMed:9110362 PubMed:15469410 UniProtKB AAP 1/9/2013 152 1000000471 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant H251R; In allele CYP2C9*9; dbSNP:rs2256871. VAR_018864 rs2256871 Y Y ECO:0000006 submission: PubMed:15469410 UniProtKB AAP 1/9/2013 152 1000000472 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant R335W; In allele CYP2C9*11; dbSNP:rs28371685. VAR_018866 rs28371685 Y Y ECO:0000006 PubMed:15469410 PubMed:11926893 UniProtKB AAP 1/9/2013 152 1000000473 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant D360E; In allele CYP2C9*5; increases the K(m) value for substrates tested; dbSNP:rs28371686. VAR_013516 rs28371686 Y Y ECO:0000006 PubMed:15469410 PubMed:11455026 UniProtKB AAP 1/9/2013 152 1000000474 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant L413P; In dbSNP:rs28371687. VAR_024717 rs28371687 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 1/9/2013 152 1000000475 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant I359T; In allele CYP2C9*4; dbSNP:rs56165452. VAR_013515 rs56165452 Y Y ECO:0000006 PubMed:10739176 UniProtKB AAP 1/9/2013 152 1000000476 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant R150H; In allele CYP2C9*8; dbSNP:rs7900194. VAR_018863 rs7900194 Y Y ECO:0000006 submission: PubMed:15469410 UniProtKB AAP 1/9/2013 152 1000000477 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant E272G; In allele CYP2C9*10; dbSNP:rs9332130. VAR_018865 rs9332130 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 152 1000000478 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant P489S; In allele CYP2C9*12; dbSNP:rs9332239. VAR_018867 rs9332239 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 152 1000000479 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant G417D; VAR_008346 Y Y ECO:0000006 PubMed:9110362 PubMed:3032244 PubMed:3196692 UniProtKB AAP 1/9/2013 152 1000000480 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant L19I; In allele CYP2C9*7. VAR_018862 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 152 1000000481 Rose P11712 1559 CYP2C9 Homo sapiens 9606 Comment/alternative products/isoform P11712-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 152 1000000482 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Comment/alternative products/isoform P10635-2;Isoform 2 VSP_044486 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 1/9/2013 146 1000000483 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Comment/alternative products/isoform P10635-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 1/9/2013 146 1000000484 Mike/Rose P10635 1565 CYP2D6 Homo sapiens 9606 Comment/polymorphism Allele CYP2D6*7 was also known as CYP2D6E, allele CYP2D6*9 as CYP2D6C, allele CYP2D6*10 as CYP2D6J, allele CYP2D6*17 as CYP2D6Z. Y Y ECO:0000311 UniProtKB nothing to map (Rose- kept allele info) AAP 1/9/2013 146 1000000485 Mike/Rose P10635 1565 CYP2D6 Homo sapiens 9606 Comment/polymorphism Isozymes CYP2D6.45 (Lys-155, Cys-296 and Thr-486) and CYP2D6.46 (His-26, Lys-155, Cys-296 and Thr-486) are functional. Y Y ECO:0000311 UniProtKB nothing to map (Rose- kept allele info) AAP 1/9/2013 146 1000000486 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant A300G; In dbSNP:rs1058170. VAR_045680 rs1058170 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 1000000487 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R365H; In dbSNP:rs1058172. VAR_045681 rs1058172 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 1000000488 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant P34S; In allele CYP2D6*10 and allele CYP2D6*14; poor debrisquone metabolism; dbSNP:rs1065852. VAR_008336 rs1065852 Y Y ECO:0000006 PubMed:15469410 PubMed:8287064 UniProtKB AAP 1/9/2013 146 1000000489 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant F120I; In dbSNP:rs1135822. VAR_024722 rs1135822 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 1/9/2013 146 1000000490 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant P469A; In dbSNP:rs1135833. VAR_024725 rs1135833 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 1/9/2013 146 1000000491 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant S486T; In allele CYP2D6*2, allele CYP2D6*10, allele CYP2D6*12, allele CYP2D6*14, allele CYP2D6*17, allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; impaired metabolism of sparteine; dbSNP:rs1135840. VAR_008341 rs1135840 Y Y ECO:0000006 PubMed:15469410 PubMed:15768052 PubMed:8287064 PubMed:10591208 PubMed:15489334 UniProtKB AAP 1/9/2013 146 1000000492 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R296C; In allele CYP2D6*2, allele CYP2D6*12, allele CYP2D6*14, allele CYP2D6*17, allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; dbSNP:rs16947. VAR_008340 rs16947 Y Y ECO:0000006 PubMed:15469410 PubMed:15768052 PubMed:10591208 PubMed:15489334 UniProtKB AAP 1/9/2013 146 1000000493 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant L231P; In dbSNP:rs17002853. VAR_045679 rs17002853 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 1000000494 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant S311L; In dbSNP:rs1800754. VAR_014633 rs1800754 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 1000000495 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R26H; In allele CYP2D6*21 and allele CYP2D6*46; dbSNP:rs28371696. VAR_008367 rs28371696 Y Y ECO:0000006 PubMed:15469410 PubMed:15768052 submission: UniProtKB AAP 1/9/2013 146 1000000496 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant L91M; In dbSNP:rs28371703. VAR_024720 rs28371703 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 1/9/2013 146 1000000497 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant H94R; In dbSNP:rs28371704. VAR_024721 rs28371704 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 1/9/2013 146 1000000498 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant T107I; In allele CYP2D6*17; poor debrisquone metabolism; dbSNP:rs28371706. VAR_008337 rs28371706 Y Y ECO:0000006 PubMed:15469410 PubMed:8971426 UniProtKB AAP 1/9/2013 146 1000000499 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant E155K; In allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; dbSNP:rs28371710. VAR_024723 rs28371710 Y Y ECO:0000006 PubMed:15469410 PubMed:15768052 UniProtKB AAP 1/9/2013 146 1000000500 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant A237S; In allele CYP2D6*33; dbSNP:rs28371717. VAR_008370 rs28371717 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 1/9/2013 146 1000000501 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant H478Y; In dbSNP:rs28371735. VAR_024726 rs28371735 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 1/9/2013 146 1000000502 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant G373S; In dbSNP:rs2856959. VAR_059151 rs2856959 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 1000000503 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R329L; In dbSNP:rs3915951. VAR_059150 rs3915951 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 1000000504 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant G42R; In allele CYP2D6*12; impaired metabolism of sparteine; dbSNP:rs5030862. VAR_001256 rs5030862 Y Y ECO:0000006 PubMed:8655150 UniProtKB AAP 1/9/2013 146 1000000505 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant G212E; In allele CYP2D6*6B and allele CYP2D6*6C; dbSNP:rs5030866. VAR_008339 rs5030866 Y Y ECO:0000006 PubMed:7868129 UniProtKB AAP 1/9/2013 146 1000000506 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant H324P; In allele CYP2D6*7; loss of activity; dbSNP:rs5030867. VAR_008348 rs5030867 Y Y ECO:0000006 PubMed:7845481 UniProtKB AAP 1/9/2013 146 1000000507 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant V11M; In allele CYP2D6*35; dbSNP:rs769258. VAR_008366 rs769258 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 1/9/2013 146 1000000508 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant 281; In allele CYP2D6*9. VAR_008347 Y Y ECO:0000006 PubMed:1844820 UniProtKB AAP 1/9/2013 146 1000000509 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant A85V; In allele CYP2D6*23. VAR_008369 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 1000000510 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant E410K; In allele CYP2D6*27. VAR_008374 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 1000000511 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant E418K; VAR_024724 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP 1/9/2013 146 1000000512 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant G169R; In allele CYP2D6*14; poor debrisquone metabolism. debrisoquin CHEBI:34665 VAR_008338 Y Y ECO:0000006 PubMed:10064570 UniProtKB should be "debrisoquine"; contact UniProt to fix typo. AAP 1/9/2013 146 1000000513 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant I297L; In allele CYP2D6*24. VAR_008371 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 1000000514 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant I369T; In allele CYP2D6*26. VAR_008373 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 1000000515 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R28C; In allele CYP2D6*22. VAR_008368 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 1000000516 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R343G; In allele CYP2D6*25. VAR_008372 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 146 1000000517 Rose P10635 1565 CYP2D6 Homo sapiens 9606 Feature/splice variant P10635-2;Isoform 2;Position 118-168:Missing;In isoform 2. VSP_044486 Y N UniProtKB No experimental confirmation available. AAP 1/9/2013 146 1000000518 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant H457L; In dbSNP:rs28969387. VAR_024727 rs28969387 Y Y ECO:0000006 PubMed:15469410 submission: UniProtKB AAP 1/9/2013 144 1000000519 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant N219D; In dbSNP:rs41299426. VAR_055382 rs41299426 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 144 1000000520 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant S366C; In dbSNP:rs41299434. VAR_055383 rs41299434 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 144 1000000521 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant V389I; In allele CYP2E1*3; dbSNP:rs55897648. VAR_008362 rs55897648 Y Y ECO:0000006 PubMed:9058590 UniProtKB AAP 1/9/2013 144 1000000522 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant V179I; In allele CYP2E1*4; dbSNP:rs6413419. VAR_008361 rs6413419 Y Y ECO:0000006 PubMed:9918138 PubMed:15469410 UniProtKB AAP 1/9/2013 144 1000000523 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant R76H; In allele CYP2E1*2; reduced activity. VAR_008360 Y Y ECO:0000006 PubMed:9058590 UniProtKB AAP 1/9/2013 144 1000000524 Rose P05181 1571 CYP2E1 Homo sapiens 9606 Comment/alternative products/isoform P05181-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 144 1000000525 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant R49S; In dbSNP:rs11572190. VAR_029159 rs11572190 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 121 1000000526 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant V113M; In dbSNP:rs11572242. VAR_029160 rs11572242 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 1000000527 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant N124S; In dbSNP:rs2228113. VAR_022084 rs2228113 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 1000000528 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant T143A; In allele CYP2J2*2; significantly reduced metabolism of both arachidonic acid and linoleic acid; dbSNP:rs55753213. VAR_014317 rs55753213 Y Y ECO:0000006 PubMed:11901223 UniProtKB Checked ref. Normal -> decreased. AAP 11/28/2012 121 1000000529 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant D342N; In allele CYP2J2*5; no change in activity; dbSNP:rs56053398. VAR_014320 rs56053398 Y Y ECO:0000006 PubMed:11901223 UniProtKB AAP 11/28/2012 121 1000000530 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant R158C; In allele CYP2J2*3; significantly reduced metabolism of both arachidonic acid and linoleic acid; dbSNP:rs56307989. VAR_014318 rs56307989 Y Y ECO:0000006 PubMed:11901223 UniProtKB Checked ref. Normal -> decreased. AAP 11/28/2012 121 1000000531 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant I192N; In allele CYP2J2*4; significantly reduced metabolism of arachidonic acid only. VAR_014319 Y Y ECO:0000006 PubMed:11901223 UniProtKB Checked ref. Normal -> decreased. AAP 11/28/2012 121 1000000532 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant N404Y; In allele CYP2J2*6; significantly reduced metabolism of both arachidonic acid and linoleic acid. VAR_014321 Y Y ECO:0000006 PubMed:11901223 UniProtKB AAP 11/28/2012 121 1000000533 Rose P51589 1573 CYP2J2 Homo sapiens 9606 Comment/alternative products/isoform P51589-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 121 1000000534 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/alternative products/isoform Q7Z449-2;Isoform 2 VSP_026222 VSP_026223 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 11/28/2012 94 1000000535 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/alternative products/isoform Q7Z449-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 94 1000000536 Rose Q7Z449 113612 CYP2U1 Homo sapiens 9606 Feature/splice variant Q7Z449-2;Isoform 2;Position 164-168:GVVFA->ELFQE;In isoform 2. VSP_026222 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 94 1000000537 Rose Q7Z449 113612 CYP2U1 Homo sapiens 9606 Feature/splice variant Q7Z449-2;Isoform 2;Position 169-544:Missing;In isoform 2. VSP_026223 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 94 1000000538 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant T349N; In dbSNP:rs10250778. VAR_037549 rs10250778 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 154 1000000539 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant I431T; In dbSNP:rs1041988. VAR_037550 rs1041988 Y Y ECO:0000006 PubMed:3464943 PubMed:2463251 UniProtKB AAP 11/28/2012 154 1000000540 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant T185S; In allele CYP3A4*16; dbSNP:rs12721627. VAR_011604 rs12721627 Y Y ECO:0000006 PubMed:11875366 PubMed:15469410 UniProtKB AAP 11/28/2012 154 1000000541 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant L373F; In allele CYP3A4*12; has an altered testosterone hydroxylase activity; dbSNP:rs12721629. VAR_011607 rs12721629 Y Y ECO:0000006 PubMed:11875366 PubMed:11470997 UniProtKB AAP 11/28/2012 154 1000000542 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant L15P; In allele CYP3A4*14; dbSNP:rs12721634. VAR_011597 rs12721634 Y Y ECO:0000006 PubMed:11875366 UniProtKB AAP 11/28/2012 154 1000000543 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant L293P; In allele CYP3A4*18; exhibits higher turnover numbers for testosterone and chlorpyrifos; dbSNP:rs28371759. VAR_014323 rs28371759 Y Y ECO:0000006 PubMed:11714865 PubMed:15469410 UniProtKB AAP 11/28/2012 154 1000000544 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant K96E; In dbSNP:rs3091339. VAR_037547 rs3091339 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 154 1000000545 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant S252A; In dbSNP:rs3208363. VAR_037548 rs3208363 Y Y ECO:0000006 PubMed:3460094 UniProtKB AAP 11/28/2012 154 1000000546 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant R162Q; In allele CYP3A4*15; dbSNP:rs4986907. VAR_011601 rs4986907 Y Y ECO:0000006 PubMed:11875366 PubMed:11714865 UniProtKB AAP 11/28/2012 154 1000000547 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant P416L; In allele CYP3A4*13; lack of expression; dbSNP:rs4986909. VAR_011608 rs4986909 Y Y ECO:0000006 PubMed:11470997 UniProtKB AAP 11/28/2012 154 1000000548 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant M445T; In allele CYP3A4*3; dbSNP:rs4986910. VAR_008364 rs4986910 Y Y ECO:0000006 PubMed:11714865 PubMed:10668853 UniProtKB AAP 11/28/2012 154 1000000549 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant P467S; In allele CYP3A4*19; dbSNP:rs4986913. VAR_014324 rs4986913 Y Y ECO:0000006 PubMed:11714865 UniProtKB AAP 11/28/2012 154 1000000550 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant F189S; In allele CYP3A4*17; exhibits lower turnover numbers for testosterone and chlorpyrifos; dbSNP:rs4987161. VAR_014322 rs4987161 Y Y ECO:0000006 PubMed:11714865 UniProtKB AAP 11/28/2012 154 1000000551 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant S222P; In allele CYP3A4*2; exhibits a lower intrinsic clearance toward nifedipine; dbSNP:rs55785340. VAR_008363 rs55785340 Y Y ECO:0000006 PubMed:10668853 UniProtKB AAP 11/28/2012 154 1000000552 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant P218R; In allele CYP3A4*5; dbSNP:rs55901263. VAR_011605 rs55901263 Y Y ECO:0000006 PubMed:11181494 UniProtKB AAP 11/28/2012 154 1000000553 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant I118V; In allele CYP3A4*4; dbSNP:rs55951658. VAR_011599 rs55951658 Y Y ECO:0000006 PubMed:11181494 UniProtKB AAP 11/28/2012 154 1000000554 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant G56D; In allele CYP3A4*7; dbSNP:rs56324128. VAR_011598 rs56324128 Y Y ECO:0000006 PubMed:11470997 UniProtKB AAP 11/28/2012 154 1000000555 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant D174H; In allele CYP3A4*10. VAR_011603 Y Y ECO:0000006 PubMed:11875366 PubMed:11470997 PubMed:15469410 UniProtKB AAP 11/28/2012 154 1000000556 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant R130Q; In allele CYP3A4*8. VAR_011600 Y Y ECO:0000006 PubMed:11470997 UniProtKB AAP 11/28/2012 154 1000000557 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant T363M; In allele CYP3A4*11; unstable form. VAR_011606 Y Y ECO:0000006 PubMed:11470997 UniProtKB AAP 11/28/2012 154 1000000558 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant V170I; In allele CYP3A4*9. VAR_011602 Y Y ECO:0000006 PubMed:11470997 UniProtKB AAP 11/28/2012 154 1000000559 Rose P08684 1576 CYP3A4 Homo sapiens 9606 Comment/alternative products/isoform P08684-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 154 1000000560 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/alternative products/isoform Q02928-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 121 1000000561 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/alternative products/isoform Q02928-2;Isoform 2 VSP_034595 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 1000000562 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/polymorphism CYP4A11v seems to be a rare allelic variant of CYP4A11, it seems to be unstable and not to metabolize lauric acid. Y Y ECO:0000311 UniProtKB moved from All topics sheet AAP 11/28/2012 121 1000000563 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/mutagenesis site E321A; Loss of covalent heme binding. Y Y ECO:0000006 PubMed:11821421 UniProtKB AAP 11/28/2012 121 1000000564 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/mutagenesis site G130S; Loss of activity. Y Y ECO:0000006 PubMed:15611369 UniProtKB Decreased —> abolished AAP 11/28/2012 121 1000000565 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/sequence variant F434S; Associated with hypertension; significantly reduced arachidonic acid and lauric acid metabolizing activity; dbSNP:rs1126742. hypertension DOID:10763 VAR_019160 rs1126742 Y Y ECO:0000006 PubMed:15611369 PubMed:8363569 PubMed:15895287 PubMed:8274222 submission: UniProtKB May want to change to Decrease AAP 11/28/2012 121 1000000566 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/sequence variant N226S; In dbSNP:rs12759923. VAR_048452 rs12759923 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 1000000567 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/sequence variant NGIHLRLRRLPNPCEDKDQLMESTCVSGGSLTLVKTRTSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAVPQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS; In CYP4A11V. VAR_001257 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 121 1000000568 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/sequence variant S353G; VAR_044377 Y Y ECO:0000006 PubMed:8363569 PubMed:15895287 UniProtKB AAP 11/28/2012 121 1000000569 Rose Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/splice variant Q02928-2;Isoform 2;Position 356-519:Missing;In isoform 2. VSP_034595 Y Y UniProtKB AAP 11/28/2012 121 1000000570 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Comment/alternative products/isoform Q5TCH4-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 75 1000000571 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Comment/alternative products/isoform Q5TCH4-2;Isoform 2 VSP_034584 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 75 1000000572 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant C231R; Allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs10789501. VAR_044357 rs10789501 Y Y ECO:0000006 PubMed:15611369 PubMed:16806293 UniProtKB AAP 11/28/2012 75 1000000573 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant R126W; In allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs12564525. VAR_044351 rs12564525 Y Y ECO:0000006 PubMed:15611369 PubMed:16806293 UniProtKB AAP 11/28/2012 75 1000000574 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant N152Y; In allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs2056899. VAR_044353 rs2056899 Y Y ECO:0000006 PubMed:15611369 PubMed:16806293 UniProtKB AAP 11/28/2012 75 1000000575 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant G130S; In allele CYP4A22*4, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs2056900. VAR_044352 rs2056900 Y Y ECO:0000006 PubMed:15611369 PubMed:16806293 UniProtKB AAP 11/28/2012 75 1000000576 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant L428P; In allele CYP4A22*6, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13 and allele CYP4A22*15; dbSNP:rs2405599. VAR_044359 rs2405599 Y Y ECO:0000006 PubMed:15611369 PubMed:16806293 UniProtKB AAP 11/28/2012 75 1000000577 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant M491I; In dbSNP:rs2758714. VAR_044360 rs2758714 Y Y ECO:0000006 PubMed:10860550 UniProtKB AAP 11/28/2012 75 1000000578 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant K121R; In dbSNP:rs2758717. VAR_044350 rs2758717 Y Y ECO:0000006 PubMed:10860550 UniProtKB AAP 11/28/2012 75 1000000579 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant C230S; In dbSNP:rs35156123. VAR_044356 rs35156123 Y Y ECO:0000006 PubMed:15611369 UniProtKB AAP 11/28/2012 75 1000000580 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant S226N; In dbSNP:rs35202523. VAR_044355 rs35202523 Y Y ECO:0000006 PubMed:15611369 UniProtKB AAP 11/28/2012 75 1000000581 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant L509F; In allele CYP4A22*7, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs4926600. VAR_044361 rs4926600 Y Y ECO:0000006 PubMed:15611369 PubMed:16806293 UniProtKB AAP 11/28/2012 75 1000000582 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant Y104F; In dbSNP:rs61507155. VAR_061045 rs61507155 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 75 1000000583 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant K276T; In allele CYP4A22*8, allele CYP4A22*11, allele CYP4A22*14 and allele CYP4A22*15. VAR_044358 Y Y ECO:0000006 PubMed:16806293 UniProtKB AAP 11/28/2012 75 1000000584 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant R11C; In allele CYP4A22*2 and CYP4A22*3. VAR_044349 Y Y ECO:0000006 PubMed:16806293 UniProtKB AAP 11/28/2012 75 1000000585 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant V185F; In allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15. VAR_044354 Y Y ECO:0000006 PubMed:16806293 UniProtKB AAP 11/28/2012 75 1000000586 Rose Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/splice variant Q5TCH4-2;Isoform 2;Position 356-519:Missing;In isoform 2. VSP_034584 Y Y UniProtKB AAP 11/28/2012 75 1000000587 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Feature/sequence variant D284N; In dbSNP:rs1060463. VAR_060267 rs1060463 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 112 1000000588 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Feature/sequence variant R146C; In dbSNP:rs57519667. VAR_060265 rs57519667 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 112 1000000589 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Feature/sequence variant C276R; In dbSNP:rs8104361. VAR_060266 rs8104361 Y Y ECO:0000006 PubMed:10964514 PubMed:15489334 UniProtKB AAP 11/28/2012 112 1000000590 Rose Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/alternative products/isoform Q9HBI6-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 112 1000000591 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant A269D; In dbSNP:rs1805040. VAR_020125 rs1805040 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 1000000592 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant V433M; In dbSNP:rs2108622. VAR_013119 rs2108622 Y Y ECO:0000006 submission: PubMed:15489334 UniProtKB AAP 11/28/2012 125 1000000593 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant S7Y; In dbSNP:rs3093104. VAR_013116 rs3093104 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 125 1000000594 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant W12G; In dbSNP:rs3093105. VAR_013117 rs3093105 Y Y ECO:0000006 submission: PubMed:15489334 UniProtKB AAP 11/28/2012 125 1000000595 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant G185V; In dbSNP:rs3093153. VAR_013118 rs3093153 Y Y ECO:0000006 submission: PubMed:14702039 UniProtKB AAP 11/28/2012 125 1000000596 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant L519M; In dbSNP:rs3093200. VAR_013120 rs3093200 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 125 1000000597 Rose P78329 8529 CYP4F2 Homo sapiens 9606 Comment/alternative products/isoform P78329-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 125 1000000598 Faith Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant S178C; In dbSNP:rs16980531. VAR_033118 rs16980531 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 84 1000000599 Faith Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant K505Q; In dbSNP:rs7256787. VAR_033119 rs7256787 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 84 1000000600 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant F59L; In LI3. MIM:604777 ichthyosis DOID:1697 VAR_037441 Y Y ECO:0000006 PubMed:16436457 UniProtKB AAP 11/28/2012 84 1000000601 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant H435Y; In LI3. MIM:604777 ichthyosis DOID:1697 VAR_037444 Y Y ECO:0000006 PubMed:16436457 UniProtKB AAP 11/28/2012 84 1000000602 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant H436D; In LI3. MIM:604777 ichthyosis DOID:1697 VAR_037445 Y Y ECO:0000006 PubMed:16436457 UniProtKB AAP 11/28/2012 84 1000000603 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant R243H; In LI3. MIM:604777 ichthyosis DOID:1697 VAR_037442 Y Y ECO:0000006 PubMed:16436457 UniProtKB AAP 11/28/2012 84 1000000604 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant R372W; In LI3. MIM:604777 ichthyosis DOID:1697 VAR_037443 Y Y ECO:0000006 PubMed:16436457 UniProtKB AAP 11/28/2012 84 1000000605 Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Comment/alternative products/isoform Q6NT55-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 84 1000000606 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Feature/sequence variant A269D; In dbSNP:rs1805040. VAR_001258 rs1805040 Y Y ECO:0000006 PubMed:8486631 PubMed:9539102 submission: UniProtKB AAP 11/28/2012 129 1000000607 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Feature/sequence variant I271T; In dbSNP:rs28371479. VAR_020665 rs28371479 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 129 1000000608 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Feature/sequence variant V270I; In dbSNP:rs28371536. VAR_020664 rs28371536 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 129 1000000609 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Feature/sequence variant H96Q; In dbSNP:rs34923393. VAR_048457 rs34923393 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 129 1000000610 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Feature/sequence variant Y106C; In dbSNP:rs35888783. VAR_048458 rs35888783 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 129 1000000611 Rose Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/alternative products/isoform Q08477-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 129 1000000612 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Feature/sequence variant P447Q; In dbSNP:rs2056822. VAR_038348 rs2056822 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 106 1000000613 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Feature/sequence variant Y125F; No effect on U-44069 and 9,11-diazo-prostadienoic acid (U-51605) hydroxylation; loss of 20:4n-6 or 22:5n-6 oxidation; dbSNP:rs2072600. VAR_038347 rs2072600 Y Y ECO:0000006 PubMed:16112640 UniProtKB AAP 2/6/2013 106 1000000614 Rose P98187 11283 CYP4F8 Homo sapiens 9606 Feature/mutagenesis site G328E; No effect on U-44069 and U-51605 hydroxylation. 20:4n-6 hydroxylation shifted from C-18 to C-19. Y Y ECO:0000006 PubMed:16112640 UniProtKB AAP 2/6/2013 106 1000000615 Rose P98187 11283 CYP4F8 Homo sapiens 9606 Comment/alternative products/isoform P98187-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 106 1000000616 Katie/Rose P16444 1800 DPEP1 Homo sapiens 9606 Feature/mutagenesis site E141{DC}; Complete loss of activity. Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 1000000617 Katie/Rose P16444 1800 DPEP1 Homo sapiens 9606 Feature/mutagenesis site E141Q; Partial loss of activity. Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 1000000618 Katie/Rose P16444 1800 DPEP1 Homo sapiens 9606 Feature/sequence variant E351K; In dbSNP:rs1126464. VAR_061375 rs1126464 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 1000000619 Katie/Rose P16444 1800 DPEP1 Homo sapiens 9606 Feature/sequence variant E351Q; In dbSNP:rs1126464. VAR_061376 rs1126464 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 1000000620 Katie/Rose P16444 1800 DPEP1 Homo sapiens 9606 Feature/sequence variant R246H; In a colorectal cancer sample; somatic mutation. colorectal cancer DOID:9256 VAR_036496 Y Y ECO:0000006 PubMed:16959974 UniProtKB AAP 2/6/2013 143 1000000621 Rose P16444 1800 DPEP1 Homo sapiens 9606 Comment/alternative products/isoform P16444-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 143 1000000622 Katie Q9H4A9 64174 DPEP2 Homo sapiens 9606 Comment/alternative products/isoform Q9H4A9-2;Isoform 2 VSP_017851 No experimental confirmation available. Y N ECO:0000035 UniProtKB AAP 11/28/2012 83 1000000623 Katie Q9H4A9 64174 DPEP2 Homo sapiens 9606 Comment/alternative products/isoform Q9H4A9-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 83 1000000624 Katie Q9H4A9 64174 DPEP2 Homo sapiens 9606 Feature/sequence variant H468D; In dbSNP:rs1133090. VAR_033894 rs1133090 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 83 1000000625 Katie Q9H4A9 64174 DPEP2 Homo sapiens 9606 Feature/sequence variant P201R; In dbSNP:rs255051. VAR_060230 rs255051 Y Y ECO:0000006 submission: PubMed:14702039 submission: PubMed:15489334 PubMed:12975309 UniProtKB AAP 11/28/2012 83 1000000626 Rose Q9H4A9 64174 DPEP2 Homo sapiens 9606 Feature/splice variant Q9H4A9-2;Isoform 2;Position 43-129:Missing;In isoform 2. VSP_017851 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 83 1000000627 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Feature/sequence variant T216A; In dbSNP:rs17855038. VAR_039039 rs17855038 Y Y ECO:0000006 PubMed:15489334 UniProtKB AAP 4/3/2013 90 1000000628 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Feature/sequence variant V225M; In dbSNP:rs6919726. VAR_039040 rs6919726 Y Y UniProtKB AAP 4/3/2013 90 1000000629 Rose Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/alternative products/isoform Q9NXB9-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 4/3/2013 90 1000000630 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/alternative products/isoform Q9NYP7-1;Isoform 1 Y Y UniProtKB full length AAP 4/3/2013 94 1000000631 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/alternative products/isoform Q9NYP7-2;Isoform 2 VSP_045918 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 4/3/2013 94 1000000632 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/alternative products/isoform Q9NYP7-3;Isoform 3 VSP_045917 VSP_045919 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 4/3/2013 94 1000000633 Faith/Rose Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Feature/splice variant Q9NYP7-2;Isoform 2;Position 82:E->ESKREQPRRSACASRTDPSTQQQLPENR;In isoform 2. VSP_045918 Y N UniProtKB No experimental confirmation available. AAP 4/3/2013 94 1000000634 Faith/Rose Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Feature/splice variant Q9NYP7-3;Isoform 3;Position 20-88:DTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMFCELVTGVW->GISSSVLRMGPPLHTVVGWLQQLQAAHSEEEEKMFHLCGFKHKEVVSQSSLPAVIPQNSLATIASHAPA;In isoform 3. VSP_045917 Y N UniProtKB No experimental confirmation available. AAP 4/3/2013 94 1000000635 Faith/Rose Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Feature/splice variant Q9NYP7-3;Isoform 3;Position 89-299:Missing;In isoform 3. VSP_045919 Y N UniProtKB No experimental confirmation available. AAP 4/3/2013 94 1000000636 Rose Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/alternative products/isoform Q9NYP7-1;Isoform 1 Y Y UniProtKB full length AAP 4/3/2013 94 1000000637 Rose Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/alternative products/isoform Q9NYP7-2;Isoform 2 VSP_045918 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 4/3/2013 94 1000000638 Rose Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Feature/splice variant Q9NYP7-2;Isoform 2;Position 82:E->ESKREQPRRSACASRTDPSTQQQLPENR;In isoform 2. VSP_045918 Y N UniProtKB No experimental confirmation available. AAP 4/3/2013 94 1000000639 Rose Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/alternative products/isoform Q9NYP7-3;Isoform 3 VSP_045917 VSP_045919 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 4/3/2013 94 1000000640 Rose Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Feature/splice variant Q9NYP7-3;Isoform 3;Position 20-88:DTRVKGWFLLDNYIPTFICSVIYLLIVWLGPKYMRNKQPFSCRGILVVYNLGLTLLSLYMFCELVTGVW->GISSSVLRMGPPLHTVVGWLQQLQAAHSEEEEKMFHLCGFKHKEVVSQSSLPAVIPQNSLATIASHAPA;In isoform 3. VSP_045917 Y N UniProtKB No experimental confirmation available. AAP 4/3/2013 94 1000000641 Rose Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Feature/splice variant Q9NYP7-3;Isoform 3;Position 89-299:Missing;In isoform 3. VSP_045919 Y N UniProtKB No experimental confirmation available. AAP 4/3/2013 94 1000000642 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/mutagenesis site C522S; Loss of S-(15-deoxy-Delta12,14-prostaglandin J2-9-yl)cysteine-induced inhibition of epoxide hydrolase activity. Y Y ECO:0000006 PubMed:21164107 UniProtKB AAP 1/9/2013 131 1000000643 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/mutagenesis site D9A; Loss of phosphatase activity. Y Y ECO:0000006 PubMed:12574508 UniProtKB AAP 1/9/2013 131 1000000644 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant R103C; Decreased phosphatase activity; no effect on epoxyde hydrolase activity; dbSNP:rs17057255. VAR_033991 rs17057255 Y Y ECO:0000006 PubMed:12869654 PubMed:15196990 submission: UniProtKB AAP 1/9/2013 131 1000000645 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant K55R; Decreased phosphatase activity; no effect on epoxyde hydrolase activity; dbSNP:rs41507953. VAR_051059 rs41507953 Y Y ECO:0000006 PubMed:12869654 PubMed:15196990 submission: UniProtKB AAP 1/9/2013 131 1000000646 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant C154Y; Decreased phosphatase activity; no effect on epoxyde hydrolase activity; dbSNP:rs57699806. VAR_055394 rs57699806 Y Y ECO:0000006 PubMed:12869654 PubMed:15196990 submission: UniProtKB AAP 1/9/2013 131 1000000647 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant R287Q; No effect on phosphatase activity; decreased epoxyde hydrolase activity; dbSNP:rs751141. VAR_014852 rs751141 Y Y ECO:0000006 PubMed:12869654 PubMed:15196990 submission: PubMed:8342951 PubMed:10862610 UniProtKB AAP 1/9/2013 131 1000000648 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant E470G; No effect on phosphatase activity and epoxyde hydrolase activity. VAR_055397 Y Y ECO:0000006 PubMed:12869654 PubMed:15196990 submission: UniProtKB AAP 1/9/2013 131 1000000649 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant G21A; VAR_055392 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 131 1000000650 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant M369V; VAR_055396 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 131 1000000651 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant P225L; VAR_055395 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 131 1000000652 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant R403RR; VAR_022613 Y Y ECO:0000006 PubMed:10862610 UniProtKB AAP 1/9/2013 131 1000000653 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant R52Q; VAR_055393 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 131 1000000654 Rose P34913 2053 EPHX2 Homo sapiens 9606 Comment/alternative products/isoform P34913-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 131 1000000655 Faith O60427 3992 FADS1 Homo sapiens 9606 Feature/sequence variant P329S; In dbSNP:rs17856235. VAR_035340 rs17856235 Y Y ECO:0000006 PubMed:15489334 UniProtKB AAP 5/1/2013 108 1000000656 Rose O60427 3992 FADS1 Homo sapiens 9606 Comment/alternative products/isoform O60427-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 5/1/2013 108 1000000657 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/alternative products/isoform O95864-1;Isoform 1 Y Y UniProtKB full length AAP 5/1/2013 101 1000000658 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/alternative products/isoform O95864-2;Isoform 2 VSP_028568 Y Y UniProtKB AAP 5/1/2013 101 1000000659 Faith O95864 9415 FADS2 Homo sapiens 9606 Comment/alternative products/isoform O95864-3;Isoform 3 VSP_028569 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 5/1/2013 101 1000000660 Faith O95864 9415 FADS2 Homo sapiens 9606 Feature/splice variant O95864-2;Isoform 2;Position 1-69:MGKGGNQGEGAAEREVSVPTFSWEEIQKHNLRTDRWLVIDRKVYNITKWSIQHPGGQRVIGHYAGEDAT->MHGREAGPFVCVCVLLASIPTPQTPLLQASLPPFHPASAGHPITGQQ;In isoform 2. VSP_028568 Y Y UniProtKB AAP 5/1/2013 101 1000000661 Faith/Rose O95864 9415 FADS2 Homo sapiens 9606 Feature/splice variant O95864-3;Isoform 3;Position 386-444:HLFPTMPRHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK->Q;In isoform 3. VSP_028569 Y N UniProtKB No experimental confirmation available. AAP 5/1/2013 101 1000000662 Rose O95864 9415 FADS2 Homo sapiens 9606 Comment/alternative products/isoform O95864-1;Isoform 1 Y Y UniProtKB full length AAP 5/1/2013 101 1000000663 Rose O95864 9415 FADS2 Homo sapiens 9606 Comment/alternative products/isoform O95864-2;Isoform 2 VSP_028568 Y Y UniProtKB AAP 5/1/2013 101 1000000664 Rose O95864 9415 FADS2 Homo sapiens 9606 Feature/splice variant O95864-2;Isoform 2;Position 1-69:MGKGGNQGEGAAEREVSVPTFSWEEIQKHNLRTDRWLVIDRKVYNITKWSIQHPGGQRVIGHYAGEDAT->MHGREAGPFVCVCVLLASIPTPQTPLLQASLPPFHPASAGHPITGQQ;In isoform 2. VSP_028568 Y Y UniProtKB AAP 5/1/2013 101 1000000665 Rose O95864 9415 FADS2 Homo sapiens 9606 Comment/alternative products/isoform O95864-3;Isoform 3 VSP_028569 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 5/1/2013 101 1000000666 Rose O95864 9415 FADS2 Homo sapiens 9606 Feature/splice variant O95864-3;Isoform 3;Position 386-444:HLFPTMPRHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK->Q;In isoform 3. VSP_028569 Y N UniProtKB No experimental confirmation available. AAP 5/1/2013 101 1000000667 Faith Q8TBF2 127281 FAM213B Homo sapiens 9606 Comment/alternative products/isoform Q8TBF2-2;Isoform 2 VSP_024581 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 2/6/2013 83 1000000668 Faith Q8TBF2 127281 FAM213B Homo sapiens 9606 Comment/alternative products/isoform Q8TBF2-3;Isoform 3 VSP_040901 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 2/6/2013 83 1000000669 Faith Q8TBF2 127281 FAM213B Homo sapiens 9606 Comment/alternative products/isoform Q8TBF2-4;Isoform 4 VSP_040903 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 2/6/2013 83 1000000670 Faith Q8TBF2 127281 FAM213B Homo sapiens 9606 Comment/alternative products/isoform Q8TBF2-5;Isoform 5 VSP_040900 VSP_040902 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 2/6/2013 83 1000000671 Faith Q8TBF2 127281 FAM213B Homo sapiens 9606 Comment/alternative products/isoform Q8TBF2-6;Isoform 6 VSP_040900 VSP_040904 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 2/6/2013 83 1000000672 Faith Q8TBF2 127281 FAM213B Homo sapiens 9606 Comment/alternative products/isoform Q8TBF2-7;Isoform 7 VSP_040901 VSP_024581 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 2/6/2013 83 1000000673 Faith Q8TBF2 127281 FAM213B Homo sapiens 9606 Comment/alternative products/isoform Q8TBF2-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 2/6/2013 83 1000000674 Rose Q8TBF2 127281 FAM213B Homo sapiens 9606 Feature/splice variant Q8TBF2-2;Isoform 2;Position 154-198:GGDKVLLHFVQKSPGDYVPKEHILQVLGISAEVCASDPPQCDREV->EVPRRLRPQGAHPAGPGHLCGGLCQRPASV;In isoform 2 and isoform 7. VSP_024581 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 83 1000000675 Rose Q8TBF2 127281 FAM213B Homo sapiens 9606 Feature/splice variant Q8TBF2-3;Isoform 3;Position 106:K->KRLWTQASPEFGQATWCLR;In isoform 3 and isoform 7. VSP_040901 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 83 1000000676 Rose Q8TBF2 127281 FAM213B Homo sapiens 9606 Feature/splice variant Q8TBF2-4;Isoform 4;Position 129-164:Missing;In isoform 4. VSP_040903 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 83 1000000677 Rose Q8TBF2 127281 FAM213B Homo sapiens 9606 Feature/splice variant Q8TBF2-5;Isoform 5;Position 1:M->MSRERGSRSEEPGAGNRESGSREPGLAAAAM;In isoform 5 and isoform 6. VSP_040900 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 83 1000000678 Rose Q8TBF2 127281 FAM213B Homo sapiens 9606 Feature/splice variant Q8TBF2-5;Isoform 5;Position 128-164:Missing;In isoform 5. VSP_040902 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 83 1000000679 Rose Q8TBF2 127281 FAM213B Homo sapiens 9606 Feature/splice variant Q8TBF2-6;Isoform 6;Position 1:M->MSRERGSRSEEPGAGNRESGSREPGLAAAAM;In isoform 5 and isoform 6. VSP_040900 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 83 1000000680 Rose Q8TBF2 127281 FAM213B Homo sapiens 9606 Feature/splice variant Q8TBF2-6;Isoform 6;Position 130-164:KAVGIQGNLSGDLLQSGGLLVVSKGGDKVLLHFVQ->VPTPDRPRLLASRGTCLGTCCRAEGCWWSAK;In isoform 6. VSP_040904 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 83 1000000681 Rose Q8TBF2 127281 FAM213B Homo sapiens 9606 Feature/splice variant Q8TBF2-7;Isoform 7;Position 106:K->KRLWTQASPEFGQATWCLR;In isoform 3 and isoform 7. VSP_040901 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 83 1000000682 Rose Q8TBF2 127281 FAM213B Homo sapiens 9606 Feature/splice variant Q8TBF2-7;Isoform 7;Position 154-198:GGDKVLLHFVQKSPGDYVPKEHILQVLGISAEVCASDPPQCDREV->EVPRRLRPQGAHPAGPGHLCGGLCQRPASV;In isoform 2 and isoform 7. VSP_024581 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 83 1000000683 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/alternative products/isoform P19440-1;Isoform 1 Produced by alternative promoter usage. Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 148 1000000684 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/alternative products/isoform P19440-3;Isoform 3 lung UBERON:0002048 lung BTO:0000763 VSP_008132 Produced by alternative promoter usage. Y Y ECO:0000311 UniProtKB Isoform 3 lung specific (see tissue comment). AAP 11/28/2012 148 1000000685 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/alternative products/isoform P19440-2;Isoform 2 VSP_001746 VSP_001747 Produced by alternative splicing of isoform 1. Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 1000000686 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site C454A; No effect on activity. Y Y ECO:0000006 PubMed:7759490 UniProtKB AAP 11/28/2012 148 1000000687 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site D422A; Reduces enzyme activity by 90%. Y Y ECO:0000006 PubMed:7759490 UniProtKB AAP 11/28/2012 148 1000000688 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site D423A; Abolishes enzyme activity. Increases KM by over 1000-fold. Y Y ECO:0000006 PubMed:7759490 UniProtKB AAP 11/28/2012 148 1000000689 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site E102Q; No effect on activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP 11/28/2012 148 1000000690 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site E108Q; Reduces enzyme activity by 98%. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP 11/28/2012 148 1000000691 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site H383A; Reduces enzyme activity by 66%. Y Y ECO:0000006 PubMed:8827453 UniProtKB AAP 11/28/2012 148 1000000692 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site H505A; Reduces enzyme activity by 90%. Y Y ECO:0000006 PubMed:8827453 UniProtKB AAP 11/28/2012 148 1000000693 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site K100N; No effect on activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP 11/28/2012 148 1000000694 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R107{QH}; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP 11/28/2012 148 1000000695 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R107K; Reduces enzyme activity by 99%. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP 11/28/2012 148 1000000696 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R112Q; No effect on activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP 11/28/2012 148 1000000697 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R139Q; No effect on activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP 11/28/2012 148 1000000698 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R147Q; No effect on activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP 11/28/2012 148 1000000699 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R150Q; No effect on activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP 11/28/2012 148 1000000700 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S385A; No effect on activity. Y Y ECO:0000006 PubMed:7673200 UniProtKB AAP 11/28/2012 148 1000000701 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S413A; No effect on activity. Y Y ECO:0000006 PubMed:7673200 UniProtKB AAP 11/28/2012 148 1000000702 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S425A; No effect on activity. Y Y ECO:0000006 PubMed:7673200 UniProtKB AAP 11/28/2012 148 1000000703 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S451A; Reduces enzyme activity by 99%. Abolishes activity; when associated with A-452. Y Y ECO:0000006 PubMed:7673200 UniProtKB AAP 11/28/2012 148 1000000704 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S452A; Reduces enzyme activity by 99%. Abolishes activity; when associated with A-451. Y Y ECO:0000006 PubMed:7673200 UniProtKB AAP 11/28/2012 148 1000000705 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/sequence variant V435A; In dbSNP:rs16986465. VAR_049181 rs16986465 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 1000000706 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/sequence variant N419D; In dbSNP:rs17004876. VAR_025546 rs17004876 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 1000000707 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/sequence variant S51L; In dbSNP:rs2330837. VAR_025545 rs2330837 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 1000000708 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/sequence variant K52E; In dbSNP:rs2330838. VAR_018373 rs2330838 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 1000000709 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/sequence variant A177V; In dbSNP:rs3895576. VAR_018374 rs3895576 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 1000000710 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/sequence variant V272A; In dbSNP:rs4049829. VAR_018372 rs4049829 Y Y ECO:0000006 PubMed:2904146 PubMed:2907498 PubMed:2563599 PubMed:2568315 PubMed:1968061 PubMed:1378736 UniProtKB AAP 11/28/2012 148 1000000711 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/splice variant P19440-2;Isoform 2;Position 341-366:VVRNMTSEFFAAQLRAQISDDTTHPI->ASSGVSAGGPQHDLRVLRCPAPGPDL;In isoform 2. VSP_001746 Y Y UniProtKB AAP 11/28/2012 148 1000000712 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/splice variant P19440-2;Isoform 2;Position 367-569:Missing;In isoform 2. VSP_001747 Y Y UniProtKB AAP 11/28/2012 148 1000000713 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/splice variant P19440-3;Isoform 3;Position 1-344:Missing;In isoform 3. VSP_008132 Y Y UniProtKB AAP 11/28/2012 148 1000000714 Rose P36269 2687 GGT5 Homo sapiens 9606 Comment/alternative products/isoform P36269-2;Isoform 2 VSP_008146 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 2/6/2013 124 1000000715 Rose P36269 2687 GGT5 Homo sapiens 9606 Comment/alternative products/isoform P36269-3;Isoform 3 VSP_043470 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 2/6/2013 124 1000000716 Rose P36269 2687 GGT5 Homo sapiens 9606 Comment/alternative products/isoform P36269-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 2/6/2013 124 1000000717 Rose P36269 2687 GGT5 Homo sapiens 9606 Feature/sequence variant K330R; In dbSNP:rs2275984. VAR_028007 rs2275984 Y Y ECO:0000006 PubMed:1676842 PubMed:10591208 UniProtKB AAP 2/6/2013 124 1000000718 Rose P36269 2687 GGT5 Homo sapiens 9606 Feature/sequence variant L11I; In dbSNP:rs5760274. VAR_028006 rs5760274 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 1000000719 Rose P36269 2687 GGT5 Homo sapiens 9606 Feature/sequence variant Q332H; In dbSNP:rs6004105. VAR_028008 rs6004105 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 1000000720 Rose P36269 2687 GGT5 Homo sapiens 9606 Feature/sequence variant I475V; In dbSNP:rs7288201. VAR_024455 rs7288201 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 1000000721 Rose P36269 2687 GGT5 Homo sapiens 9606 Feature/splice variant P36269-2;Isoform 2;Position 101-132:Missing;In isoform 2. VSP_008146 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 124 1000000722 Rose P36269 2687 GGT5 Homo sapiens 9606 Feature/splice variant P36269-3;Isoform 3;Position 445:P->PA;In isoform 3. VSP_043470 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 124 1000000723 Faith Q6P531 124975 GGT6 Homo sapiens 9606 Comment/alternative products/isoform Q6P531-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 69 1000000724 Faith Q6P531 124975 GGT6 Homo sapiens 9606 Comment/alternative products/isoform Q6P531-2;Isoform 2 VSP_030451 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 69 1000000725 Faith Q6P531 124975 GGT6 Homo sapiens 9606 Feature/sequence variant A58V; In dbSNP:rs11657054. VAR_038139 rs11657054 Y Y ECO:0000006 PubMed:14702039 submission: PubMed:15489334 UniProtKB AAP 11/28/2012 69 1000000726 Faith Q6P531 124975 GGT6 Homo sapiens 9606 Feature/sequence variant R40W; In dbSNP:rs7216284. VAR_038138 rs7216284 Y Y ECO:0000006 PubMed:14702039 UniProtKB AAP 11/28/2012 69 1000000727 Rose Q6P531 124975 GGT6 Homo sapiens 9606 Feature/splice variant Q6P531-2;Isoform 2;Position 116-147:Missing;In isoform 2. VSP_030451 Y Y UniProtKB AAP 11/28/2012 69 1000000728 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/alternative products/isoform Q9UJ14-1;Isoform 1;a Gene prediction confirmed by EST data. Y Y ECO:0000311 UniProtKB full length AAP 1/9/2013 101 1000000729 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/alternative products/isoform Q9UJ14-4;Isoform 2 VSP_008134 VSP_008138 VSP_008139 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 1/9/2013 101 1000000730 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/alternative products/isoform Q9UJ14-6;Isoform 4 VSP_008133 VSP_008140 VSP_008141 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 1/9/2013 101 1000000731 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/alternative products/isoform Q9UJ14-5;Isoform 3;B VSP_008136 VSP_008137 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 101 1000000732 Rose Q9UJ14 2686 GGT7 Homo sapiens 9606 Feature/splice variant Q9UJ14-4;Isoform 2;Position 1-76:Missing;In isoform 2. VSP_008134 Y N UniProtKB No experimental confirmation available. AAP 1/9/2013 101 1000000733 Rose Q9UJ14 2686 GGT7 Homo sapiens 9606 Feature/splice variant Q9UJ14-4;Isoform 2;Position 273-289:ARALAEQLPPNMSERFR->GQWGLGIWERHEVDGEG;In isoform 2. VSP_008138 Y N UniProtKB No experimental confirmation available. AAP 1/9/2013 101 1000000734 Rose Q9UJ14 2686 GGT7 Homo sapiens 9606 Feature/splice variant Q9UJ14-4;Isoform 2;Position 290-662:Missing;In isoform 2. VSP_008139 Y N UniProtKB No experimental confirmation available. AAP 1/9/2013 101 1000000735 Rose Q9UJ14 2686 GGT7 Homo sapiens 9606 Feature/splice variant Q9UJ14-5;Isoform 3;B;Position 226-251:PGLLVGVPGMVKGLHEAHQLYGRLPW->VGTLVRRESSGESLFIALLLTQALIC;In isoform 3. VSP_008136 Y Y UniProtKB AAP 1/9/2013 101 1000000736 Rose Q9UJ14 2686 GGT7 Homo sapiens 9606 Feature/splice variant Q9UJ14-5;Isoform 3;B;Position 252-662:Missing;In isoform 3. VSP_008137 Y Y UniProtKB AAP 1/9/2013 101 1000000737 Rose Q9UJ14 2686 GGT7 Homo sapiens 9606 Feature/splice variant Q9UJ14-6;Isoform 4;Position 1-283:Missing;In isoform 4. VSP_008133 Y N UniProtKB No experimental confirmation available. AAP 1/9/2013 101 1000000738 Rose Q9UJ14 2686 GGT7 Homo sapiens 9606 Feature/splice variant Q9UJ14-6;Isoform 4;Position 369-425:HLVLSPPPPHTGPALISALNILEGFNLTSLVSREQALHWVAETLKIALALASRLGDP->DLSPGSQGPPSGEASQSMATSFWPRDSSPFHRRETKAVSYLGSQLLKQTRVSPPSEK;In isoform 4. VSP_008140 Y N UniProtKB No experimental confirmation available. AAP 1/9/2013 101 1000000739 Rose Q9UJ14 2686 GGT7 Homo sapiens 9606 Feature/splice variant Q9UJ14-6;Isoform 4;Position 426-662:Missing;In isoform 4. VSP_008141 Y N UniProtKB No experimental confirmation available. AAP 1/9/2013 101 1000000740 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/alternative products/isoform Q13304-1;Isoform 1 Y Y UniProtKB full length AAP 4/3/2013 104 1000000741 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/alternative products/isoform Q13304-2;Isoform 2 VSP_001987 Y Y UniProtKB AAP 4/3/2013 104 1000000742 Faith Q13304 2840 GPR17 Homo sapiens 9606 Feature/splice variant Q13304-2;Isoform 2;Position 1-28:Missing;In isoform 2. VSP_001987 Y Y UniProtKB AAP 4/3/2013 104 1000000743 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant P200L; Frequent polymorphism; dbSNP:rs1050450. VAR_007904 rs1050450 Y Y ECO:0000006 submission: PubMed:15331559 PubMed:10220143 PubMed:15247771 UniProtKB AAP 2/6/2013 155 1000000744 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant R5P; In dbSNP:rs8179169. VAR_020912 rs8179169 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 155 1000000745 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant A194T; VAR_020915 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 155 1000000746 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant deletion of alanine at position 8 VAR_020914 Y Y ECO:0000006 PubMed:3658677 PubMed:3697069 PubMed:2955287 PubMed:2307470 PubMed:1556108 PubMed:12496980 PubMed:15331559 UniProtKB AAP 2/6/2013 155 1000000747 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant deletion of alanines at positions 7 and 8 VAR_020913 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 155 1000000748 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant 7-8; VAR_020913 Y Y UniProtKB AAP 2/6/2013 155 1000000749 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant 8; VAR_020914 Y Y ECO:0000006 PubMed:3658677 PubMed:3697069 PubMed:2955287 PubMed:2307470 PubMed:1556108 PubMed:12496980 PubMed:15331559 UniProtKB AAP 2/6/2013 155 1000000750 Rose P07203 2876 GPX1 Homo sapiens 9606 Comment/alternative products/isoform P07203-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 155 1000000751 Rose P18283 2877 GPX2 Homo sapiens 9606 Feature/sequence variant R146C; In dbSNP:rs17880492. VAR_020917 rs17880492 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 127 1000000752 Rose P18283 2877 GPX2 Homo sapiens 9606 Feature/sequence variant P126L; In dbSNP:rs17881652. VAR_020916 rs17881652 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 127 1000000753 Rose P18283 2877 GPX2 Homo sapiens 9606 Feature/sequence variant A37L; Requires 2 nucleotide substitutions. VAR_003615 Y Y ECO:0000006 PubMed:10806356 UniProtKB AAP 2/6/2013 127 1000000754 Rose P18283 2877 GPX2 Homo sapiens 9606 Feature/sequence variant I176M; VAR_003616 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 127 1000000755 Rose P18283 2877 GPX2 Homo sapiens 9606 Comment/alternative products/isoform P18283-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 127 1000000756 Rose P22352 2878 GPX3 Homo sapiens 9606 Feature/sequence variant F128L; In dbSNP:rs8177445. VAR_020943 rs8177445 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 138 1000000757 Rose P22352 2878 GPX3 Homo sapiens 9606 Comment/alternative products/isoform P22352-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 138 1000000758 Katie P36969 2879 GPX4 Homo sapiens 9606 Comment/alternative products/isoform P36969-1;Isoform Mitochondrial Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 137 1000000759 Katie P36969 2879 GPX4 Homo sapiens 9606 Comment/alternative products/isoform P36969-2;Isoform Cytoplasmic VSP_018740 Y Y ECO:0000311 UniProtKB Reviewed by Faith AAP 11/28/2012 137 1000000760 Katie P36969 2879 GPX4 Homo sapiens 9606 Feature/mutagenesis site U73A; Loss of enzyme activity. Y Y ECO:0000006 PubMed:17630701 UniProtKB Reviewed by Faith Decreased —> abolished AAP 11/28/2012 137 1000000761 Katie P36969 2879 GPX4 Homo sapiens 9606 Feature/mutagenesis site U73C; Almost complete loss of enzyme activity. Y Y ECO:0000006 PubMed:17630701 UniProtKB Reviewed by Faith. Added missing PATO qualifier based on text parsed. AAP 11/28/2012 137 1000000762 Katie P36969 2879 GPX4 Homo sapiens 9606 Feature/sequence variant S2N; In dbSNP:rs8178967. VAR_017063 rs8178967 Y Y ECO:0000006 submission: PubMed:12606444 UniProtKB Reviewed by Faith AAP 11/28/2012 137 1000000763 Katie P36969 2879 GPX4 Homo sapiens 9606 Feature/sequence variant A120T; In a patient affected by cryptorchidism. cryptorchidism DOID:11383 VAR_017064 Y Y ECO:0000006 PubMed:12606444 UniProtKB Reviewed by Faith AAP 11/28/2012 137 1000000764 Rose P36969 2879 GPX4 Homo sapiens 9606 Feature/splice variant P36969-2;Isoform Cytoplasmic;Position 1-27:Missing;In isoform Cytoplasmic. VSP_018740 Y Y UniProtKB AAP 11/28/2012 137 1000000765 Mike O75715 2880 GPX5 Homo sapiens 9606 Comment/alternative products/isoform O75715-2;Isoform 2 VSP_043046 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 11/28/2012 110 1000000766 Mike O75715 2880 GPX5 Homo sapiens 9606 Comment/alternative products/isoform O75715-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 110 1000000767 Mike O75715 2880 GPX5 Homo sapiens 9606 Feature/sequence variant L85P; In dbSNP:rs58554303. VAR_061206 rs58554303 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 110 1000000768 Mike O75715 2880 GPX5 Homo sapiens 9606 Feature/sequence variant L85V; In dbSNP:rs769188. VAR_012040 rs769188 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 110 1000000769 Faith/Rose O75715 2880 GPX5 Homo sapiens 9606 Feature/splice variant O75715-2;Isoform 2;Position 81-221:ELNALQEELKPYGLVVLGFPCNQFGKQEPGDNKEILPGLKYVRPGGGFVPSFQLFEKGDVNGEKEQKVFSFLKHSCPHPSEILGTFKSISWDPVKVHDIRWNFEKFLVGPDGIPVMRWSHRATVSSVKTDILAYLKQFKTK->GMSVQGEDLYLVSSFLRKGM;In isoform 2. VSP_043046 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 110 1000000770 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant Y53H; In dbSNP:rs34825130. VAR_025251 rs34825130 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 84 1000000771 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant D161G; In dbSNP:rs34955392. VAR_025257 rs34955392 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 84 1000000772 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant Y72N; In dbSNP:rs35062161. VAR_025253 rs35062161 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 84 1000000773 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant E136D; In dbSNP:rs35394555. VAR_025254 rs35394555 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 84 1000000774 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant Q6L; In dbSNP:rs35510314. VAR_025249 rs35510314 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 84 1000000775 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant P157S; In dbSNP:rs35658392. VAR_025256 rs35658392 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 84 1000000776 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant V188A; In dbSNP:rs35701070. VAR_025258 rs35701070 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 84 1000000777 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant V140M; In dbSNP:rs36055795. VAR_025255 rs36055795 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 84 1000000778 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant F13L; In dbSNP:rs406113. VAR_025250 rs406113 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 84 1000000779 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant Q58H; In dbSNP:rs6922986. VAR_025252 rs6922986 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 84 1000000780 Rose P59796 257202 GPX6 Homo sapiens 9606 Comment/alternative products/isoform P59796-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 84 1000000781 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/alternative products/isoform P15428-2;Isoform 2 VSP_043032 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 2/6/2013 135 1000000782 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Comment/alternative products/isoform P15428-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 2/6/2013 135 1000000783 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Comment/alternative products/isoform P15428-3;Isoform 3 VSP_045106 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 135 1000000784 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Comment/alternative products/isoform P15428-4;Isoform 4 VSP_045107 VSP_045108 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 135 1000000785 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/mutagenesis site Q148{EHN}; Reduced affinity for NAD and prostaglandin E2. Y Y ECO:0000006 PubMed:16828555 UniProtKB AAP 2/6/2013 135 1000000786 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/mutagenesis site Q148A; Loss of activity. Y Y ECO:0000006 PubMed:16828555 UniProtKB AAP 2/6/2013 135 1000000787 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/mutagenesis site Y151A; Loss of activity. Y Y ECO:0000006 PubMed:2025296 UniProtKB AAP 2/6/2013 135 1000000788 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/sequence variant A140P; In COA; inactive. MIM:259100 primary hypertrophic osteoarthropathy DOID:14283 VAR_046209 Y Y ECO:0000006 PubMed:18500342 UniProtKB Normal -> abolished AAP 2/6/2013 135 1000000789 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/sequence variant S193P; In ICNC. MIM:119900 skin disease DOID:37 Hereditary clubbing SNOMEDCT:239055005 VAR_060792 Y Y ECO:0000006 PubMed:18805827 UniProtKB AAP 2/6/2013 135 1000000790 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/sequence variant Y217C; VAR_006972 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 135 1000000791 Rose P15428 3248 HPGD Homo sapiens 9606 Feature/splice variant P15428-2;Isoform 2;Position 167-266:LAANLMNSGVRLNAICPGFVNTAILESIEKEENMGQYIEYKDHIKDMIKYYGILDPPLIANGLITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ->PTIDCQWIDNTH;In isoform 2. VSP_043032 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 135 1000000792 Rose P15428 3248 HPGD Homo sapiens 9606 Feature/splice variant P15428-3;Isoform 3;Position 1-121:Missing;In isoform 3. VSP_045106 Y Y UniProtKB AAP 2/6/2013 135 1000000793 Rose P15428 3248 HPGD Homo sapiens 9606 Feature/splice variant P15428-4;Isoform 4;Position 140-143:AGLM->AAHH;In isoform 4. VSP_045107 Y Y UniProtKB AAP 2/6/2013 135 1000000794 Rose P15428 3248 HPGD Homo sapiens 9606 Feature/splice variant P15428-4;Isoform 4;Position 144-266:Missing;In isoform 4. VSP_045108 Y Y UniProtKB AAP 2/6/2013 135 1000000795 Mike O60760 27306 HPGDS Homo sapiens 9606 Feature/mutagenesis site D93N; Loss of activation by calcium or magnesium ions. Y Y ECO:0000006 PubMed:12627223 UniProtKB AAP 2/6/2013 124 1000000796 Mike O60760 27306 HPGDS Homo sapiens 9606 Feature/mutagenesis site D96N; Increases PGD2 synthesis. Loss of activation by calcium or magnesium ions. Y Y ECO:0000006 PubMed:12627223 UniProtKB AAP 2/6/2013 124 1000000797 Mike O60760 27306 HPGDS Homo sapiens 9606 Feature/mutagenesis site D97N; Reduces PGD2 synthesis by 99%. Loss of activation by calcium or magnesium ions. Y Y ECO:0000006 PubMed:12627223 UniProtKB AAP 2/6/2013 124 1000000798 Rose O60760 27306 HPGDS Homo sapiens 9606 Comment/alternative products/isoform O60760-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 124 1000000799 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/mutagenesis site E173A; Increased activity towards PAPC. Increased PAPC/POPC activity ratio. Y Y ECO:0000006 PubMed:14636062 UniProtKB AAP 11/28/2012 141 1000000800 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/mutagenesis site E173D; Little change in enzyme specific activity nor in PAPC/POPC activity ratio. Y Y ECO:0000006 PubMed:14636062 UniProtKB AAP 11/28/2012 141 1000000801 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/mutagenesis site E173K; Decreased enzyme specific activity. Increased PAPC/POPC activity ratio. Y Y ECO:0000006 PubMed:14636062 UniProtKB AAP 11/28/2012 141 1000000802 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/mutagenesis site E173L; Increased activity towards PAPC. Increased PAPC/POPC activity ratio. Y Y ECO:0000006 PubMed:14636062 UniProtKB AAP 11/28/2012 141 1000000803 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/mutagenesis site E173Q; Decreased enzyme specific activity. Increased PAPC/POPC activity ratio. Y Y ECO:0000006 PubMed:14636062 UniProtKB AAP 11/28/2012 141 1000000804 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant A117T; In LCATD; dbSNP:rs28940886. MIM:245900 Norum disease DOID:1391 VAR_004255 rs28940886 Y Y ECO:0000006 PubMed:8432868 PubMed:8318557 UniProtKB AAP 11/28/2012 141 1000000805 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R159W; In LCATD; dbSNP:rs28940887. MIM:245900 Norum disease DOID:1391 VAR_004257 rs28940887 Y Y ECO:0000006 PubMed:8432868 UniProtKB AAP 11/28/2012 141 1000000806 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T345M; In LCATD; dbSNP:rs28940888. MIM:245900 Norum disease DOID:1391 VAR_004266 rs28940888 Y Y ECO:0000006 PubMed:8432868 PubMed:12957688 UniProtKB AAP 11/28/2012 141 1000000807 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant L233P; In LCATD; dbSNP:rs28942087. MIM:245900 Norum disease DOID:1391 VAR_004262 rs28942087 Y Y ECO:0000006 PubMed:8432868 UniProtKB AAP 11/28/2012 141 1000000808 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant S232T; In dbSNP:rs4986970. VAR_017030 rs4986970 Y Y ECO:0000006 PubMed:12957688 PubMed:12966036 PubMed:16874701 UniProtKB AAP 11/28/2012 141 1000000809 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant A165T; VAR_039029 Y Y ECO:0000006 PubMed:15994445 UniProtKB AAP 11/28/2012 141 1000000810 Mike/Rose P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant EY134-135DN; In a patient with low HDL-cholesterol levels; results in reduced activity. VAR_066863 Y Y ECO:0000311 UniProtKB OMIM/MTHU003052:Decreased HDL cholesterol ; HP_0003233:Hypoalphalipoproteinemia AAP 11/28/2012 141 1000000811 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant F406V; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039038 Y Y ECO:0000006 PubMed:12957688 UniProtKB AAP 11/28/2012 141 1000000812 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant G54S; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_004253 Y Y ECO:0000006 PubMed:8807342 UniProtKB AAP 11/28/2012 141 1000000813 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant G57R; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_004254 Y Y ECO:0000006 PubMed:7711728 UniProtKB AAP 11/28/2012 141 1000000814 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant G95R; In a compound heterozygote carrying H-164; intermediate phenotype between LCATD and FED; reduction of activity. VAR_039024 Y Y ECO:0000006 PubMed:16216249 UniProtKB AAP 11/28/2012 141 1000000815 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant K242N; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039031 Y Y ECO:0000006 PubMed:15994445 UniProtKB AAP 11/28/2012 141 1000000816 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant L17LLLPPAAPFWL; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_004251 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 141 1000000817 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant L338F; In FED; results in reduced protein secretion and activity. MIM:136120 corneal dystrophy DOID:2566 VAR_066867 Y Y ECO:0000006 PubMed:21901787 UniProtKB AAP 11/28/2012 141 1000000818 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant L396R; In a patient with LCATD. MIM:245900 Norum disease DOID:1391 VAR_039037 Y Y ECO:0000006 PubMed:15994445 PubMed:16874701 UniProtKB AAP 11/28/2012 141 1000000819 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant M276K; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_004264 Y Y ECO:0000006 PubMed:1516702 UniProtKB AAP 11/28/2012 141 1000000820 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant M317I; In LCATD; partially defective enzyme. MIM:245900 Norum disease DOID:1391 VAR_004265 Y Y ECO:0000006 PubMed:1681161 PubMed:1859405 UniProtKB AAP 11/28/2012 141 1000000821 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant N252K; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_004263 Y Y ECO:0000006 PubMed:1681161 UniProtKB AAP 11/28/2012 141 1000000822 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant N29I; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039020 Y Y ECO:0000006 PubMed:9007616 UniProtKB AAP 11/28/2012 141 1000000823 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant P331S; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039035 Y Y ECO:0000006 PubMed:9741700 UniProtKB AAP 11/28/2012 141 1000000824 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant P34L; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_004252 Y Y ECO:0000006 PubMed:1571050 UniProtKB AAP 11/28/2012 141 1000000825 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant P34Q; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_039021 Y Y ECO:0000006 PubMed:8620346 UniProtKB AAP 11/28/2012 141 1000000826 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R123C; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_039026 Y Y ECO:0000006 PubMed:9261271 UniProtKB AAP 11/28/2012 141 1000000827 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R159Q; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_039027 Y Y ECO:0000006 PubMed:8620346 UniProtKB AAP 11/28/2012 141 1000000828 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R164C; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039028 Y Y ECO:0000006 PubMed:15994445 UniProtKB AAP 11/28/2012 141 1000000829 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R164H; In LCATD; also in a compound heterozygote carrying R-95 with intermediate phenotype between LCATD and FED; loss of activity. MIM:245900 Norum disease DOID:1391 VAR_004258 Y Y ECO:0000006 PubMed:7607641 PubMed:16216249 UniProtKB AAP 11/28/2012 141 1000000830 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R171W; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_004259 Y Y ECO:0000006 PubMed:2370048 PubMed:15994445 UniProtKB AAP 11/28/2012 141 1000000831 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R182C; VAR_004261 Y Y ECO:0000006 PubMed:8432868 PubMed:8318557 UniProtKB AAP 11/28/2012 141 1000000832 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R268C; In a patient with low HDL-cholesterol levels; the mutant is hardly secreted and is catalytically inactive. VAR_066865 Y Y ECO:0000006 PubMed:21901787 UniProtKB AAP 11/28/2012 141 1000000833 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R268H; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039032 Y Y ECO:0000006 PubMed:15994445 UniProtKB AAP 11/28/2012 141 1000000834 Mike/Rose P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R322C; In a patient with low HDL-cholesterol levels; reduced protein secretion. VAR_066866 Y Y ECO:0000006 PubMed:21901787 UniProtKB OMIM/MTHU003052:Decreased HDL cholesterol ; HP_0003233:Hypoalphalipoproteinemia AAP 11/28/2012 141 1000000835 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R347C; In FED; results in reduced activity. MIM:136120 corneal dystrophy DOID:2566 VAR_066868 Y Y ECO:0000006 PubMed:21901787 UniProtKB AAP 11/28/2012 141 1000000836 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant S115P; VAR_039025 Y Y ECO:0000006 PubMed:15994445 UniProtKB AAP 11/28/2012 141 1000000837 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant S205N; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039030 Y Y ECO:0000006 PubMed:15994445 UniProtKB AAP 11/28/2012 141 1000000838 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T147I; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_004256 Y Y ECO:0000006 PubMed:1737840 UniProtKB AAP 11/28/2012 141 1000000839 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T298A; In FED and LCATD. MIM:136120 corneal dystrophy DOID:2566 VAR_039033 Y Y ECO:0000006 PubMed:11423760 PubMed:15994445 UniProtKB AAP 11/28/2012 141 1000000840 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T298A; In FED and LCATD. MIM:245900 Norum disease DOID:1391 VAR_039033 Y Y ECO:0000006 PubMed:11423760 PubMed:15994445 UniProtKB AAP 11/28/2012 141 1000000841 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T298I; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039034 Y Y ECO:0000006 PubMed:15994445 UniProtKB AAP 11/28/2012 141 1000000842 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T371M; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_004267 Y Y ECO:0000006 PubMed:1737840 UniProtKB AAP 11/28/2012 141 1000000843 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T37M; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039022 Y Y ECO:0000006 PubMed:9741700 UniProtKB AAP 11/28/2012 141 1000000844 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant V246F; In a patient with low HDL-cholesterol levels; the mutant is hardly secreted and is catalytically inactive. VAR_066864 Y Y ECO:0000006 PubMed:21901787 UniProtKB AAP 11/28/2012 141 1000000845 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant V333M; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_039036 Y Y ECO:0000006 PubMed:15994445 PubMed:16051254 UniProtKB AAP 11/28/2012 141 1000000846 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant V70E; In FED. MIM:136120 corneal dystrophy DOID:2566 VAR_039023 Y Y ECO:0000006 PubMed:15994445 UniProtKB AAP 11/28/2012 141 1000000847 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant W99S; In FED; loss of activity. MIM:136120 corneal dystrophy DOID:2566 VAR_066862 Y Y ECO:0000006 PubMed:21901787 UniProtKB AAP 11/28/2012 141 1000000848 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant Y180N; In LCATD. MIM:245900 Norum disease DOID:1391 VAR_004260 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 141 1000000849 Rose P04180 3931 LCAT Homo sapiens 9606 Comment/alternative products/isoform P04180-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 141 1000000850 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/alternative products/isoform P38571-2;Isoform 2 VSP_018596 VSP_018597 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 11/28/2012 128 1000000851 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/alternative products/isoform P38571-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 128 1000000852 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant T16P; In dbSNP:rs1051338. VAR_004247 rs1051338 Y Y ECO:0000006 PubMed:1718995 PubMed:14702039 PubMed:15489334 UniProtKB AAP 11/28/2012 128 1000000853 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant G23R; In dbSNP:rs1051339. VAR_026523 rs1051339 Y Y ECO:0000006 PubMed:8725147 UniProtKB AAP 11/28/2012 128 1000000854 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant V29L; In dbSNP:rs17850891. VAR_026524 rs17850891 Y Y ECO:0000006 PubMed:15489334 UniProtKB AAP 11/28/2012 128 1000000855 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant F228S; In dbSNP:rs2228159. VAR_049821 rs2228159 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 128 1000000856 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant H129P; In CESD. MIM:278000 Wolman disease DOID:14497 Wolman's disease SNOMEDCT:82500001 VAR_004248 Y Y ECO:0000006 PubMed:9633819 UniProtKB AAP 11/28/2012 128 1000000857 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant H129R; In CESD. MIM:278000 Wolman disease DOID:14497 Wolman's disease SNOMEDCT:82500001 VAR_004249 Y Y ECO:0000006 PubMed:9633819 UniProtKB AAP 11/28/2012 128 1000000858 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant L200P; In CESD and WOD. MIM:278000 Wolman disease DOID:14497 Wolman's disease SNOMEDCT:82500001 VAR_004250 Y Y ECO:0000006 PubMed:8146180 UniProtKB AAP 11/28/2012 128 1000000859 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/splice variant P38571-2;Isoform 2;Position 1-56:Missing;In isoform 2. VSP_018596 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 128 1000000860 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/splice variant P38571-2;Isoform 2;Position 57-76:DGYILCLNRIPHGRKNHSDK->MACLEFVPFDVQMCLEFLPS;In isoform 2. VSP_018597 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 128 1000000861 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/alternative products/isoform Q05469-1;Isoform 1;Testicular testis UBERON:0000473 testis BTO:0001363 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 118 1000000862 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/alternative products/isoform Q05469-2;Isoform 2 VSP_017116 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 118 1000000863 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant S177T; In dbSNP:rs16975748. VAR_025111 rs16975748 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 118 1000000864 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant Y100H; In dbSNP:rs16975750. VAR_025108 rs16975750 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 118 1000000865 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant N499H; In dbSNP:rs33921216. VAR_025115 rs33921216 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 118 1000000866 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant Q127H; In dbSNP:rs34080774. VAR_025109 rs34080774 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 118 1000000867 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant P146S; In dbSNP:rs34348028. VAR_025110 rs34348028 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 118 1000000868 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant A194V; In dbSNP:rs34996020. VAR_025112 rs34996020 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 118 1000000869 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant K497N; In dbSNP:rs35938529. VAR_025114 rs35938529 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 118 1000000870 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant R217Q; In dbSNP:rs3745238. VAR_025113 rs3745238 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 118 1000000871 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant R938S; In dbSNP:rs7246232. VAR_025116 rs7246232 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 118 1000000872 Faith/Rose Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant P146Q; In a breast cancer sample; somatic mutation. breast cancer DOID:1612 VAR_036539 Y Y ECO:0000006 PubMed:16959974 UniProtKB breast cancer sample AAP 11/28/2012 118 1000000873 Rose Q05469 3991 LIPE Homo sapiens 9606 Feature/splice variant Q05469-2;Isoform 2;Position 1-301:Missing;In isoform 2. VSP_017116 Y Y UniProtKB AAP 11/28/2012 118 1000000874 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/alternative products/isoform Q9Y5X9-2;Isoform 2 VSP_013302 VSP_013303 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 11/28/2012 117 1000000875 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/alternative products/isoform Q9Y5X9-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 117 1000000876 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Feature/sequence variant T111I; In dbSNP:rs2000813. VAR_017028 rs2000813 Y Y ECO:0000006 PubMed:12966036 UniProtKB AAP 11/28/2012 117 1000000877 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Feature/sequence variant G26S; In dbSNP:rs9963243. VAR_034082 rs9963243 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 117 1000000878 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Feature/sequence variant G96S; VAR_017027 Y Y ECO:0000006 PubMed:12966036 UniProtKB AAP 11/28/2012 117 1000000879 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Feature/sequence variant R312H; VAR_017029 Y Y ECO:0000006 PubMed:12966036 UniProtKB AAP 11/28/2012 117 1000000880 Faith/Rose Q9Y5X9 9388 LIPG Homo sapiens 9606 Feature/splice variant Q9Y5X9-2;Isoform 2;Position 346-354:VYHYQMKIH->GNLQSLECP;In isoform 2. VSP_013302 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 117 1000000881 Faith/Rose Q9Y5X9 9388 LIPG Homo sapiens 9606 Feature/splice variant Q9Y5X9-2;Isoform 2;Position 355-500:Missing;In isoform 2. VSP_013303 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 117 1000000882 Faith Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Comment/alternative products/isoform Q7L5N7-2;Isoform 2 VSP_019912 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 1/9/2013 84 1000000883 Faith Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Comment/alternative products/isoform Q7L5N7-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 1/9/2013 84 1000000884 Faith Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Feature/sequence variant M163I; In dbSNP:rs837550. VAR_027058 rs837550 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 84 1000000885 Rose Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Feature/splice variant Q7L5N7-2;Isoform 2;Position 1-270:Missing;In isoform 2. VSP_019912 Y N UniProtKB No experimental confirmation available. AAP 1/9/2013 84 1000000886 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Feature/sequence variant I217T; In dbSNP:rs1984564. VAR_050028 rs1984564 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 82 1000000887 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Feature/sequence variant F63L; In dbSNP:rs34196984. VAR_050027 rs34196984 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 82 1000000888 Rose Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/alternative products/isoform Q6P1A2-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 82 1000000889 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/alternative products/isoform P09960-1;Isoform 1;L-LTA4 Y Y ECO:0000311 UniProtKB full length AAP 2/6/2013 161 1000000890 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/alternative products/isoform P09960-2;Isoform 2;S-LTA4 VSP_041108 VSP_041109 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000891 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/alternative products/isoform P09960-3;Isoform 3 VSP_041107 VSP_041108 VSP_041109 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000892 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity Isoform 1 and isoform 2 are expressed in monocytes, lymphocytes, neutrophils, reticulocytes, platelets and fibroblasts. Y N ECO:0000311 UniProtKB leaving this line here to show what the original annotation was before parsing AAP 2/6/2013 161 1000000893 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity Isoform 1 and isoform 2 are expressed in monocytes, lymphocytes, neutrophils, reticulocytes, platelets and fibroblasts. Y N ECO:0000311 UniProtKB leaving this line here to show what the original annotation was before parsing AAP 2/6/2013 161 1000000894 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-1;L-LTA4 blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000895 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-1;L-LTA4 fibroblast BTO:0000452 fibroblast CL:0000057 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000896 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-1;L-LTA4 lymphocyte BTO:0000775 lymphocyte CL:0000542 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000897 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-1;L-LTA4 monocyte BTO:0000876 monocyte CL:0000576 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000898 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-1;L-LTA4 neutrophil BTO:0000130 neutrophil CL:0000775 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000899 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-1;L-LTA4 reticulocyte BTO:0001173 reticulocyte CL:0000558 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000900 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-2;S-LTA4 blood platelet BTO:0000132 platelet CL:0000233 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000901 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-2;S-LTA4 fibroblast BTO:0000452 fibroblast CL:0000057 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000902 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-2;S-LTA4 lymphocyte BTO:0000775 lymphocyte CL:0000542 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000903 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-2;S-LTA4 monocyte BTO:0000876 monocyte CL:0000576 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000904 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-2;S-LTA4 neutrophil BTO:0000130 neutrophil CL:0000775 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000905 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/tissue specificity P09960-2;S-LTA4 reticulocyte BTO:0001173 reticulocyte CL:0000558 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000906 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D372N; No loss of activity. Y Y ECO:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000907 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D374N; No loss of activity. Y Y ECO:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000908 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D376A; Strongly reduced hydrolysis of peptides starting with Arg. Small effect on hydrolysis of peptides starting with Ala. Strongly reduced epoxide hydrolase activity. Y Y ECO:0000006 PubMed:11917124 PubMed:18804029 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000909 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D376E; Strongly reduced aminopeptidase activity. Abolishes epoxide hydrolase activity. Y Y ECO:0000006 PubMed:11917124 PubMed:18804029 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000910 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D376E; Strongly reduced aminopeptidase activity. Abolishes epoxide hydrolase activity. Y Y ECO:0000006 PubMed:11917124 PubMed:18804029 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000911 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D376N; Abolishes aminopeptidase and epoxide hydrolase activity. Y Y ECO:0000006 PubMed:11917124 PubMed:18804029 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000912 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D376N; Abolishes aminopeptidase and epoxide hydrolase activity. Y Y ECO:0000006 PubMed:11917124 PubMed:18804029 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000913 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E272{AD}; Complete loss of activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 2/6/2013 161 1000000914 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E272Q; Loss of LTA4 activity, and aminopeptidase activity strongly impaired. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 2/6/2013 161 1000000915 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E297A; Loss of both activities. Y Y ECO:0000006 PubMed:18804029 PubMed:1881903 PubMed:1516710 PubMed:1357660 UniProtKB AAP 2/6/2013 161 1000000916 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E297K; Loss of both activities. Y Y ECO:0000006 PubMed:18804029 PubMed:1881903 PubMed:1516710 PubMed:1357660 UniProtKB AAP 2/6/2013 161 1000000917 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E297Q; Loss of aminopeptidase activity, but keeps LTA4 activity. Y Y ECO:0000006 PubMed:18804029 PubMed:1881903 PubMed:1516710 PubMed:1357660 UniProtKB AAP 2/6/2013 161 1000000918 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E297Q; Loss of aminopeptidase activity, but keeps LTA4 activity. Y Y ECO:0000006 PubMed:18804029 PubMed:1881903 PubMed:1516710 PubMed:1357660 UniProtKB AAP 2/6/2013 161 1000000919 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E319A; Complete loss of activity. Y Y ECO:0000006 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000920 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E385Q; Reduced aminopeptidase activity. Minor effect on epoxide hydrolase activity. Y Y ECO:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000921 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site G269A; No loss of activity. Y Y ECO:0000006 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000922 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site G270A; No loss of activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 2/6/2013 161 1000000923 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site H140Q; Aminopeptidase activity almost absent, but keeps LTA4 activity. Y Y ECO:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000924 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site H140Q; Aminopeptidase activity almost absent, but keeps LTA4 activity. Y Y ECO:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000925 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site H296Y; Complete loss of activity. Y Y ECO:0000006 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000926 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site H300L; Complete loss of activity. Y Y ECO:0000006 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000927 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site K566{AM}; Strongly reduced affinity for peptide substrates. Reduced epoxide hydrolase and aminopeptidase activity. Y Y ECO:0000006 PubMed:15078870 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000928 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site K566R; No effect on epoxide hydrolase and aminopeptidase activity. Y Y ECO:0000006 PubMed:15078870 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000929 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site M271L; No loss of activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 2/6/2013 161 1000000930 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site N273A; No loss of activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 2/6/2013 161 1000000931 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q135{AL}; Srongly increased epoxide hydrolase activity. Y Y ECO:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000932 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q135A; Strongly reduced aminopeptidase activity. Strongly decreased affinity for leukotriene. Abolishes epoxide hydrolase activity. Y Y ECO:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000933 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q135A; Strongly reduced aminopeptidase activity. Strongly decreased affinity for leukotriene. Abolishes epoxide hydrolase activity. Y Y ECO:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000934 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q135A; Strongly reduced aminopeptidase activity. Strongly decreased affinity for leukotriene. Abolishes epoxide hydrolase activity. Y Y ECO:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000935 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q137A; No loss of activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 2/6/2013 161 1000000936 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q137L; Aminopeptidase activity strongly impaired, but keeps LTA4 activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 2/6/2013 161 1000000937 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q137L; Aminopeptidase activity strongly impaired, but keeps LTA4 activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 2/6/2013 161 1000000938 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q137N; Aminopeptidase activity almost absent, but keeps LTA4 activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 2/6/2013 161 1000000939 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q137N; Aminopeptidase activity almost absent, but keeps LTA4 activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 2/6/2013 161 1000000940 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site R564{AKM}; Abolishes epoxide hydrolase activity. Reduced aminopeptidase activity. Y Y ECO:0000006 PubMed:15078870 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000941 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site R564{AKM}; Abolishes epoxide hydrolase activity. Reduced aminopeptidase activity. Y Y ECO:0000006 PubMed:15078870 PubMed:1881903 UniProtKB AAP 2/6/2013 161 1000000942 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/sequence variant Y131H; In dbSNP:rs45630737. VAR_051570 rs45630737 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 161 1000000943 Rose P09960 4048 LTA4H Homo sapiens 9606 Feature/splice variant P09960-2;Isoform 2;S-LTA4;Position 511-532:APLPLGHIKRMQEVYNFNAINN->MAAALHSIQVGGRNSFGAKDGN;In isoform 2 and isoform 3. VSP_041108 Y Y UniProtKB AAP 2/6/2013 161 1000000944 Rose P09960 4048 LTA4H Homo sapiens 9606 Feature/splice variant P09960-2;Isoform 2;S-LTA4;Position 533-611:Missing;In isoform 2 and isoform 3. VSP_041109 Y Y UniProtKB AAP 2/6/2013 161 1000000945 Rose P09960 4048 LTA4H Homo sapiens 9606 Feature/splice variant P09960-3;Isoform 3;Position 1-53:MPEIVDTCSLASPASVCRTKHLHLRCSVDFTRRTLTGTAALTVQSQEDNLRSL->MLPQRNLSKRQVPTMHIPVKTRRLLAALK;In isoform 3. VSP_041107 Y Y UniProtKB AAP 2/6/2013 161 1000000946 Rose P09960 4048 LTA4H Homo sapiens 9606 Feature/splice variant P09960-3;Isoform 3;Position 511-532:APLPLGHIKRMQEVYNFNAINN->MAAALHSIQVGGRNSFGAKDGN;In isoform 2 and isoform 3. VSP_041108 Y Y UniProtKB AAP 2/6/2013 161 1000000947 Rose P09960 4048 LTA4H Homo sapiens 9606 Feature/splice variant P09960-3;Isoform 3;Position 533-611:Missing;In isoform 2 and isoform 3. VSP_041109 Y Y UniProtKB AAP 2/6/2013 161 1000000948 Faith Q15722 1241 LTB4R Homo sapiens 9606 Feature/mutagenesis site S310A; No effect on affinity for leukotriene B4 or on desensitization by GRK6. Y Y ECO:0000006 PubMed:12077128 UniProtKB AAP 1/9/2013 123 1000000949 Faith Q15722 1241 LTB4R Homo sapiens 9606 Feature/mutagenesis site T308{PA}; No effect on affinity for leukotriene B4, induces resistance to desensitization by GRK6, but minor effect on phosphorylation by GRK6. Y Y ECO:0000006 PubMed:12077128 UniProtKB induces resistance to desensitization by GRK6 AAP 1/9/2013 123 1000000950 Faith Q15722 1241 LTB4R Homo sapiens 9606 Feature/sequence variant L346F; In dbSNP:rs17849864. VAR_060679 rs17849864 Y Y ECO:0000006 submission: PubMed:15489334 UniProtKB AAP 1/9/2013 123 1000000951 Rose Q15722 1241 LTB4R Homo sapiens 9606 Comment/alternative products/isoform Q15722-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 123 1000000952 Katie Q9NPC1 56413 LTB4R2 Homo sapiens 9606 Comment/alternative products/isoform Q9NPC1-2;Isoform 2 VSP_044885 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 2/6/2013 107 1000000953 Katie Q9NPC1 56413 LTB4R2 Homo sapiens 9606 Comment/alternative products/isoform Q9NPC1-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 2/6/2013 107 1000000954 Faith/Rose Q9NPC1 56413 LTB4R2 Homo sapiens 9606 Feature/splice variant Q9NPC1-2;Isoform 2;Position 1-31:Missing;In isoform 2. VSP_044885 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 107 1000000955 Faith Q16873 4056 LTC4S Homo sapiens 9606 Feature/sequence variant R142Q; In dbSNP:rs11541078. VAR_042736 rs11541078 Y Y ECO:0000006 PubMed:15489334 UniProtKB AAP 11/28/2012 116 1000000956 Rose Q16873 4056 LTC4S Homo sapiens 9606 Comment/alternative products/isoform Q16873-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 116 1000000957 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Comment/alternative products/isoform P49137-1;Isoform 1 Has a nuclear localization signal. Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 134 1000000958 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Comment/alternative products/isoform P49137-2;Isoform 2 VSP_004910 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 134 1000000959 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site D207A; Kinase defective mutant, abolishes activity. Y Y ECO:0000006 PubMed:8846784 UniProtKB AAP 11/28/2012 134 1000000960 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site K353R; Induces decreased sumoylation and increase in protein kinase activity. Y Y ECO:0000006 PubMed:21131586 UniProtKB AAP 11/28/2012 134 1000000961 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site K93R; Kinase defective mutant, abolishes activity. Y Y ECO:0000006 PubMed:14517288 UniProtKB AAP 11/28/2012 134 1000000962 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site S272A; Strong decrease in kinase activity. Y Y ECO:0000006 PubMed:8846784 UniProtKB AAP 11/28/2012 134 1000000963 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site S272D; Mimicks phosphorylation state, leading to slight increase of basal kinase activity. Y Y ECO:0000006 PubMed:8846784 UniProtKB AAP 11/28/2012 134 1000000964 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T222A; Strong decrease in kinase activity. Y Y ECO:0000006 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB AAP 11/28/2012 134 1000000965 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T222D; Mimicks phosphorylation state, leading to slight increase of basal kinase activity. Y Y ECO:0000006 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB AAP 11/28/2012 134 1000000966 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T222E; Mimicks phosphorylation state and constitutive protein kinase activity; when associated with E-334. Y Y ECO:0000006 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB AAP 11/28/2012 134 1000000967 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T334{DE}; Mimicks phosphorylation state, leading to elevated basal kinase activity. Y Y ECO:0000006 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB AAP 11/28/2012 134 1000000968 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T334A; Slight decrease in kinase activity. Y Y ECO:0000006 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB AAP 11/28/2012 134 1000000969 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T334E; Mimicks phosphorylation state and constitutive protein kinase activity; when associated with E-222. Y Y ECO:0000006 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB AAP 11/28/2012 134 1000000970 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/sequence variant A173G; In dbSNP:rs35671930. VAR_040753 rs35671930 Y Y ECO:0000006 PubMed:17344846 UniProtKB AAP 11/28/2012 134 1000000971 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/sequence variant A361S; In dbSNP:rs55894011. VAR_040754 rs55894011 Y Y ECO:0000006 PubMed:17344846 UniProtKB AAP 11/28/2012 134 1000000972 Rose P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/splice variant P49137-2;Isoform 2;Position 354-400:EEMTSALATMRVDYEQIKIKKIEDASNPLLLKRRKKARALEAAALAH->GCLHDKNSDQATWLTRL;In isoform 2. VSP_004910 Y Y UniProtKB AAP 11/28/2012 134 1000000973 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/alternative products/isoform Q96N66-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 74 1000000974 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/alternative products/isoform Q96N66-2;Isoform 2 VSP_030967 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 74 1000000975 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/alternative products/isoform Q96N66-3;Isoform 3 VSP_030968 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 74 1000000976 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Feature/sequence variant F261L; In dbSNP:rs17855385. VAR_038526 rs17855385 Y Y ECO:0000006 PubMed:15489334 UniProtKB AAP 11/28/2012 74 1000000977 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Feature/sequence variant V415L; In dbSNP:rs35909464. VAR_038527 rs35909464 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 74 1000000978 Rose Q96N66 79143 MBOAT7 Homo sapiens 9606 Feature/splice variant Q96N66-2;Isoform 2;Position 1-111:MSPEEWTYLVVLLISIPIGFLFKKAGPGLKRWGAAAVGLGLTLFTCGPHTLHSLVTILGTWALIQAQPCSCHALALAWTFSYLLFFRALSLLGLPTPTPFTNAVQLLLTLK->MGSSRCGPGAHPVHLWPPHFAFSGHHPRDLGPHSGPAL;In isoform 2. VSP_030967 Y Y UniProtKB AAP 11/28/2012 74 1000000979 Rose Q96N66 79143 MBOAT7 Homo sapiens 9606 Feature/splice variant Q96N66-3;Isoform 3;Position 345-472:Missing;In isoform 3. VSP_030968 Y Y UniProtKB AAP 11/28/2012 74 1000000980 Rose Q99735 4258 MGST2 Homo sapiens 9606 Comment/alternative products/isoform Q99735-1;Isoform 1 Y Y UniProtKB full length AAP 4/3/2013 110 1000000981 Rose Q99735 4258 MGST2 Homo sapiens 9606 Comment/alternative products/isoform Q99735-2;Isoform 2 VSP_044538 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 4/3/2013 110 1000000982 Rose Q99735 4258 MGST2 Homo sapiens 9606 Feature/sequence variant A101V; In dbSNP:rs8192111. VAR_019997 rs8192111 Y Y ECO:0000006 submission: UniProtKB AAP 4/3/2013 110 1000000983 Rose Q99735 4258 MGST2 Homo sapiens Feature/splice variant Q99735-2;Isoform 2;Position 53-147:QQNCVEFYPIFIITLWMAGWYFNQVFATCLGLVYIYGRHLYFWGYSEAAKKRITGFRLSLGILALLTLLGALGIANSFLDEYLDLNIAKKLRRQF->HFCYLSGSGVHIWPSPILLGIFRSC;In isoform 2. VSP_044538 Y N UniProtKB No experimental confirmation available. AAP 4/3/2013 110 1000000984 Rose O14880 4259 MGST3 Homo sapiens 9606 Feature/mutagenesis site C150S; Abolishes S-acylation; when associated with S-151. Y Y ECO:0000006 PubMed:21044946 UniProtKB AAP 4/3/2013 110 1000000985 Rose O14880 4259 MGST3 Homo sapiens 9606 Feature/mutagenesis site C151S; Abolishes S-acylation; when associated with S-150. Y Y ECO:0000006 PubMed:21044946 UniProtKB AAP 4/3/2013 110 1000000986 Rose O14880 4259 MGST3 Homo sapiens 9606 Feature/sequence variant G15C; In dbSNP:rs1802087. VAR_012061 rs1802087 Y Y UniProtKB AAP 4/3/2013 110 1000000987 Rose O14880 4259 MGST3 Homo sapiens 9606 Feature/sequence variant P48S; In dbSNP:rs1802088. VAR_012062 rs1802088 Y Y UniProtKB AAP 4/3/2013 110 1000000988 Rose O14880 4259 MGST3 Homo sapiens 9606 Comment/alternative products/isoform O14880-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 4/3/2013 110 1000000989 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Feature/sequence variant M316L; In dbSNP:rs17029947. VAR_049428 rs17029947 Y Y UniProtKB AAP 4/3/2013 92 1000000990 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Feature/sequence variant L407V; In dbSNP:rs2278586. VAR_023940 rs2278586 Y Y ECO:0000006 PubMed:12606753 UniProtKB AAP 4/3/2013 92 1000000991 Rose Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/alternative products/isoform Q8TDS5-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 4/3/2013 92 1000000992 Mike P04054 5319 PLA2G1B Homo sapiens 9606 Feature/sequence variant D16A; In dbSNP:rs5632. VAR_011911 rs5632 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 140 1000000993 Mike P04054 5319 PLA2G1B Homo sapiens 9606 Feature/sequence variant N89T; In dbSNP:rs5635. VAR_011912 rs5635 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 140 1000000994 Mike P04054 5319 PLA2G1B Homo sapiens 9606 Feature/sequence variant N89K; In dbSNP:rs5636. VAR_011913 rs5636 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 140 1000000995 Rose P04054 5319 PLA2G1B Homo sapiens 9606 Comment/alternative products/isoform P04054-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 140 1000000996 Mike P14555 5320 PLA2G2A Homo sapiens 9606 Feature/sequence variant H19Y; In dbSNP:rs11573162. VAR_018953 rs11573162 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 154 1000000997 Rose P14555 5320 PLA2G2A Homo sapiens 9606 Comment/alternative products/isoform P14555-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 154 1000000998 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant S80G; In dbSNP:rs584367. VAR_012741 rs584367 Y Y ECO:0000006 submission: PubMed:10455175 PubMed:14702039 UniProtKB AAP 2/6/2013 115 1000000999 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant H73R; VAR_055388 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 115 1000001000 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant H96R; VAR_055389 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 115 1000001001 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant Q65H; VAR_055387 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 115 1000001002 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant R121C; VAR_055390 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 115 1000001003 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant R121L; VAR_055391 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 115 1000001004 Rose Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Comment/alternative products/isoform Q9UNK4-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 115 1000001005 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/alternative products/isoform Q9BZM2-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 100 1000001006 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/alternative products/isoform Q9BZM2-2;Isoform 2 VSP_037524 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 100 1000001007 Rose Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Feature/splice variant Q9BZM2-2;Isoform 2;Position 1:M->MADGAKANPKGFKKKVLDRCFSGWRGPRFGASCPSRTSRSSLGM;In isoform 2. VSP_037524 Y Y UniProtKB AAP 11/28/2012 100 1000001008 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/mutagenesis site H184Q; Loss of PGE2 synthesis. Y Y ECO:0000006 PubMed:12522102 PubMed:15863501 UniProtKB AAP 11/28/2012 110 1000001009 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/mutagenesis site N167S; Loss of glycosylation. Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP 11/28/2012 110 1000001010 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/mutagenesis site N280S; Loss of glycosylation. Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP 11/28/2012 110 1000001011 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/sequence variant S322R; In dbSNP:rs2072193. VAR_024557 rs2072193 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 110 1000001012 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/sequence variant E116Q; In dbSNP:rs2074734. VAR_024556 rs2074734 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 110 1000001013 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/sequence variant L157V; In dbSNP:rs2074735. VAR_020288 rs2074735 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 110 1000001014 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/sequence variant S70A; In dbSNP:rs2232176. VAR_024555 rs2232176 Y Y ECO:0000006 PubMed:10713052 PubMed:15489334 UniProtKB AAP 11/28/2012 110 1000001015 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/sequence variant H307Y; In dbSNP:rs2232180. VAR_056581 rs2232180 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 110 1000001016 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/sequence variant R378Q; In dbSNP:rs2232183. VAR_034366 rs2232183 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 110 1000001017 Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/alternative products/isoform Q9NZ20-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 110 1000001018 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C139A; No effect on phospholipase activity; when associated with A-141 and A-151. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001019 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C141A; No effect on phospholipase activity; when associated with A-139 and A-151. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001020 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C151A; No effect on phospholipase activity; when associated with A-139 and A-141. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001021 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C220A; No effect on phospholipase activity. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001022 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C324A; No effect on phospholipase activity; when associated with A-331. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001023 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C331A; No effect on phospholipase activity; when associated with A-324. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001024 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C620A; No effect on phospholipase activity; when associated with A-634. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001025 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C634A; No effect on phospholipase activity; when associated with A-620. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001026 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C726A; No effect on phospholipase activity. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001027 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site D549A; Abolishes phospholipiase activity. Y Y ECO:0000006 PubMed:8702602 UniProtKB AAP 11/28/2012 140 1000001028 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site D549E; Reduces phospholipiase activity 2000-fold. Y Y ECO:0000006 PubMed:8702602 UniProtKB AAP 11/28/2012 140 1000001029 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site D549N; Reduces phospholipiase activity 300-fold. Y Y ECO:0000006 PubMed:8702602 UniProtKB AAP 11/28/2012 140 1000001030 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site R200{AH}; Abolishes phospholipase activity. Y Y ECO:0000006 PubMed:8702602 UniProtKB AAP 11/28/2012 140 1000001031 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site R200K; Reduces phospholipase activity 200-fold. Y Y ECO:0000006 PubMed:8702602 UniProtKB AAP 11/28/2012 140 1000001032 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site S195A; 5-fold reduced phospholipase and lysophosphatase activities. 100-fold reduced phospholipase and lysophosphatase activities; when associated with A-577. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001033 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site S215A; No effect on phospholipase or lysophosphatase activity. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001034 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site S228{ACT}; Abolishes both phospholipase and lysophosphatase activities. Y Y ECO:0000006 PubMed:8619991 PubMed:8702602 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001035 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site S505A; Decreases agonist-stimulated release of arachidonic acid. Y Y ECO:0000006 PubMed:8381049 UniProtKB AAP 11/28/2012 140 1000001036 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site S577A; 7-fold reduced phospholipase and lysophosphatase activities. 100-fold reduced phospholipase and lysophosphatase activities; when associated with A-195. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 1000001037 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/sequence variant V224I; In dbSNP:rs12720588. VAR_018760 rs12720588 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 140 1000001038 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/sequence variant R651K; In dbSNP:rs2307198. VAR_018424 rs2307198 Y Y ECO:0000006 submission: PubMed:1904318 PubMed:1869522 PubMed:15489334 UniProtKB AAP 11/28/2012 140 1000001039 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/sequence variant G103R; In dbSNP:rs28395828. VAR_029276 rs28395828 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 1000001040 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/sequence variant I637V; In dbSNP:rs28395831. VAR_062128 rs28395831 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 140 1000001041 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/sequence variant H442Q; In a breast cancer sample; somatic mutation. breast cancer DOID:1612 VAR_035826 Y Y ECO:0000006 PubMed:16959974 UniProtKB AAP 11/28/2012 140 1000001042 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/alternative products/isoform P47712-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 140 1000001043 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/alternative products/isoform P0C869-6;Isoform 5;Beta1 VSP_039387 Based on a naturally occurring readthrough transcript which produces a JMJD7-PLA2G4B fusion protein. Y Y ECO:0000311 UniProtKB P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 1000001044 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/alternative products/isoform P0C869-7;Isoform 2;beta2 VSP_039387 VSP_039389 VSP_039390 Based on a naturally occurring readthrough transcript which produces a JMJD7-PLA2G4B fusion protein. Y Y ECO:0000311 UniProtKB P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 1000001045 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/alternative products/isoform P0C869-8;Isoform 3;beta3 VSP_039387 VSP_039388 Based on a naturally occurring readthrough transcript which produces a JMJD7-PLA2G4B fusion protein. Y Y ECO:0000311 UniProtKB P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 1000001046 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/alternative products/isoform O95712-4;Isoform 4 VSP_019871 No experimental confirmation available. Y N ECO:0000035 UniProtKB br {mso-data-placement:same-cell;}P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681.;Reviewed by Rose AAP 11/28/2012 45 1000001047 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Comment/alternative products/isoform P0C869-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length, P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 1000001048 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Feature/mutagenesis site D615A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 45 1000001049 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Feature/mutagenesis site H417A; No effect. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 45 1000001050 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Feature/mutagenesis site R632A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 45 1000001051 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Feature/mutagenesis site S335A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 45 1000001052 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Feature/sequence variant R191C; In dbSNP:rs3816533. VAR_027047 rs3816533 Y Y ECO:0000006 PubMed:14702039 UniProtKB AAP 11/28/2012 45 1000001053 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Feature/sequence variant M239I; In dbSNP:rs2290552. VAR_027048 rs2290552 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 45 1000001054 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Feature/sequence variant R391H; In dbSNP:rs34807597. VAR_034365 rs34807597 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 45 1000001055 Mike P0C869 100137049;8681 PLA2G4B Homo sapiens 9606 Feature/sequence variant T591I; In dbSNP:rs36126315. VAR_060082 rs36126315 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 45 1000001056 Rose P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/splice variant O95712-4;Isoform 4;Position 1-299:Missing;In isoform 4. VSP_019871 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 45 1000001057 Rose P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/splice variant P0C869-6;Isoform 5;Beta1;Position 1-3:MAV->MAEAALEAVRSELREFPAAARELCVPLAVPYLDKPPTPLHFYRDWVCPNRPCIIRNALQHWPALQKWSLPYFRATVGSTEVSVAVTPDGYADAVRGDRFMMPAERRLPLSFVLDVLEGRAQHPGVLYVQKQCSNLPSELPQLLPDLESHVPWASEALGKMPDAVNFWLGEAAAVTSLHKDHYENLYCVVSGEKHFLFHPPSDRPFIPYELYTPATYQLTEEGTFKVVDEEAMEK;In isoform 2, isoform 3 and isoform 5. VSP_039387 Y Y UniProtKB P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 1000001058 Rose P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/splice variant P0C869-7;Isoform 2;beta2;Position 650-662:QLQLLGRFCQEQG->GSGGHPRRRQLGR;In isoform 2. VSP_039389 Y Y UniProtKB P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 1000001059 Rose P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/splice variant P0C869-7;Isoform 2;beta2;Position 663-781:Missing;In isoform 2. VSP_039390 Y Y UniProtKB P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 1000001060 Rose P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/splice variant P0C869-8;Isoform 3;beta3;Position 641-765:Missing;In isoform 3. VSP_039388 Y Y UniProtKB P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 1000001061 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/mutagenesis site D385A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 93 1000001062 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/mutagenesis site R402A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 93 1000001063 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/mutagenesis site R54A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 93 1000001064 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/mutagenesis site S82A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 93 1000001065 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant E21K; In dbSNP:rs11564522. VAR_018761 rs11564522 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 93 1000001066 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant A127V; In dbSNP:rs11564532. VAR_018762 rs11564532 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 93 1000001067 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant V142F; In dbSNP:rs11564534. VAR_018763 rs11564534 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 93 1000001068 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant P151L; In dbSNP:rs11564538. VAR_018765 rs11564538 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 93 1000001069 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant T226S; In dbSNP:rs11564541. VAR_018766 rs11564541 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 93 1000001070 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant T360P; In dbSNP:rs11564620. VAR_018767 rs11564620 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 93 1000001071 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant D411N; In dbSNP:rs11564638. VAR_018768 rs11564638 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 93 1000001072 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant S203P; In dbSNP:rs156631. VAR_018422 rs156631 Y Y ECO:0000006 PubMed:10085124 submission: UniProtKB AAP 11/28/2012 93 1000001073 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant I143V; In dbSNP:rs2303744. VAR_018421 rs2303744 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 93 1000001074 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant A38P; In dbSNP:rs2307279. VAR_018420 rs2307279 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 93 1000001075 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant R148G; In dbSNP:rs2307282. VAR_018764 rs2307282 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 93 1000001076 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant R430C; VAR_018423 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 93 1000001077 Rose Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/alternative products/isoform Q9UP65-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 93 1000001078 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/alternative products/isoform Q86XP0-2;Isoform 2 VSP_019881 VSP_019882 May be due to an intron retention. Ref.2 (AAH34571) sequence is in conflict in position: 713:G->R. Y Y ECO:0000311 UniProtKB AAP 11/28/2012 82 1000001079 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/alternative products/isoform Q86XP0-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 82 1000001080 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant P275R; In dbSNP:rs11635685. VAR_057676 rs11635685 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 82 1000001081 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant A649G; In dbSNP:rs17690899. VAR_027050 rs17690899 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 82 1000001082 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant R573W; In dbSNP:rs17747505. VAR_027049 rs17747505 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 82 1000001083 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant R747G; In dbSNP:rs2459692. VAR_027051 rs2459692 Y Y ECO:0000006 PubMed:16213696 UniProtKB AAP 11/28/2012 82 1000001084 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant S434T; In dbSNP:rs4924618. VAR_057677 rs4924618 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 82 1000001085 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant R807Q; In dbSNP:rs750051. VAR_057679 rs750051 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 82 1000001086 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant R783Q; In dbSNP:rs750052. VAR_057678 rs750052 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 82 1000001087 Rose Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/splice variant Q86XP0-2;Isoform 2;Position 682-723:ALQQTELYCRARGLPFPRVEPSPQDQHQPRECHLFSDPACPE->VPWSPQGNPSAQPGQAPEASSRATEPLPHTAGVPKGRRGVRP;In isoform 2. VSP_019881 Y Y UniProtKB AAP 11/28/2012 82 1000001088 Rose Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/splice variant Q86XP0-2;Isoform 2;Position 724-818:Missing;In isoform 2. VSP_019882 Y Y UniProtKB AAP 11/28/2012 82 1000001089 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Comment/alternative products/isoform Q3MJ16-2;Isoform 2 VSP_019883 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 11/28/2012 70 1000001090 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Comment/alternative products/isoform Q3MJ16-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 70 1000001091 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Feature/sequence variant N388S; In dbSNP:rs4924595. VAR_027052 rs4924595 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 70 1000001092 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Feature/sequence variant A681T; In dbSNP:rs8030775. VAR_027053 rs8030775 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 70 1000001093 Rose Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Feature/splice variant Q3MJ16-2;Isoform 2;Position 1-364:Missing;In isoform 2. VSP_019883 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 70 1000001094 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 Comment/alternative products/isoform Q68DD2-2;Isoform 2 VSP_019888 VSP_019889 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 11/28/2012 72 1000001095 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 Comment/alternative products/isoform Q68DD2-3;Isoform 3 VSP_019887 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 11/28/2012 72 1000001096 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 Comment/alternative products/isoform Q68DD2-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 72 1000001097 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 Feature/sequence variant M740V; In dbSNP:rs1356410. VAR_027054 rs1356410 Y Y ECO:0000006 PubMed:17974005 UniProtKB AAP 11/28/2012 72 1000001098 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 Feature/sequence variant G30V; In dbSNP:rs636604. VAR_053553 rs636604 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 72 1000001099 Rose Q68DD2 255189 PLA2G4F Homo sapiens 9606 Feature/splice variant Q68DD2-2;Isoform 2;Position 433-454:ALSTERLQYYTQELGVRERSGH->DVRVSPCQLPRLHSSNLDHSLW;In isoform 2. VSP_019888 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 72 1000001100 Rose Q68DD2 255189 PLA2G4F Homo sapiens 9606 Feature/splice variant Q68DD2-2;Isoform 2;Position 455-849:Missing;In isoform 2. VSP_019889 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 72 1000001101 Rose Q68DD2 255189 PLA2G4F Homo sapiens 9606 Feature/splice variant Q68DD2-3;Isoform 3;Position 352:G->GQV;In isoform 3. VSP_019887 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 72 1000001102 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Feature/sequence variant G45C; In FRFB. MIM:228980 retinal disease DOID:5679 Retinal flecking SNOMEDCT:247138002 VAR_067343 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 1000001103 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Feature/sequence variant G49S; In FRFB. MIM:228980 retinal disease DOID:5679 Retinal flecking SNOMEDCT:247138002 VAR_067344 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 1000001104 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/alternative products/isoform P39877-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 123 1000001105 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/alternative products/isoform O60733-1;Isoform LH-iPLA2 Y Y ECO:0000311 UniProtKB full length AAP 1/9/2013 128 1000001106 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/alternative products/isoform O60733-2;Isoform SH-iPLA2 VSP_000278 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 128 1000001107 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/alternative products/isoform O60733-3;Isoform Ankyrin-iPLA2-1 VSP_000281 VSP_000282 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 128 1000001108 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/alternative products/isoform O60733-4;Isoform Ankyrin-iPLA2-2 VSP_000277 VSP_000279 VSP_000280 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 128 1000001109 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant V58I; In dbSNP:rs11570605. VAR_018961 rs11570605 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 128 1000001110 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R63G; In dbSNP:rs11570606. VAR_018962 rs11570606 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 128 1000001111 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R70Q; In dbSNP:rs11570607. VAR_018963 rs11570607 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 128 1000001112 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant D183N; In dbSNP:rs11570646. VAR_018964 rs11570646 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 128 1000001113 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant A343T; In dbSNP:rs11570680. VAR_018965 rs11570680 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 128 1000001114 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant S774T; In dbSNP:rs34184838. VAR_037903 rs34184838 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 128 1000001115 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant 691; In NBIA2A. MIM:256600 VAR_029374 Y Y ECO:0000006 PubMed:16783378 PubMed:17033970 UniProtKB AAP 1/9/2013 128 1000001116 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant K545T; In NBIA2B. MIM:610217 VAR_029372 Y Y ECO:0000006 PubMed:16783378 UniProtKB AAP 1/9/2013 128 1000001117 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R632W; In NBIA2B. MIM:610217 VAR_029373 Y Y ECO:0000006 PubMed:16783378 UniProtKB AAP 1/9/2013 128 1000001118 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R741Q; In PARK14. MIM:612953 Parkinson's disease DOID:14330 VAR_062530 Y Y ECO:0000006 PubMed:18570303 UniProtKB AAP 1/9/2013 128 1000001119 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R747W; In PARK14. MIM:612953 Parkinson's disease DOID:14330 VAR_062531 Y Y ECO:0000006 PubMed:18570303 UniProtKB AAP 1/9/2013 128 1000001120 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant V310E; In NBIA2A. MIM:256600 VAR_029371 Y Y ECO:0000006 PubMed:16783378 UniProtKB AAP 1/9/2013 128 1000001121 Faith O60733 8398 PLA2G6 Homo sapiens 9606 Feature/splice variant O60733-2;Isoform SH-iPLA2;Position 396-450:LVTRKAILTLLRTVGAEYCFPPIHGVPAEQGSAAPHHPFSLERAQPPPISLNNLE->Q;In isoform SH-iPLA2. VSP_000278 Y Y UniProtKB AAP 1/9/2013 128 1000001122 Faith O60733 8398 PLA2G6 Homo sapiens 9606 Feature/splice variant O60733-3;Isoform Ankyrin-iPLA2-1;Position 477-479:HDH->CRT;In isoform Ankyrin-iPLA2-1. VSP_000281 Y Y UniProtKB AAP 1/9/2013 128 1000001123 Faith O60733 8398 PLA2G6 Homo sapiens 9606 Feature/splice variant O60733-3;Isoform Ankyrin-iPLA2-1;Position 480-806:Missing;In isoform Ankyrin-iPLA2-1. VSP_000282 Y Y UniProtKB AAP 1/9/2013 128 1000001124 Faith O60733 8398 PLA2G6 Homo sapiens 9606 Feature/splice variant O60733-4;Isoform Ankyrin-iPLA2-2;Position 450-499:ELQDLMHISRARKPAFILGSMRDEKRTHDHLLCLDGGGVKGLIIIQLLIA->GSHPSQAGWWAWGAVSDGTTGSHAHLTGPEASVHPGLHEGREADMQNLSP;In isoform Ankyrin-iPLA2-2. VSP_000279 Y Y UniProtKB AAP 1/9/2013 128 1000001125 Faith O60733 8398 PLA2G6 Homo sapiens 9606 Feature/splice variant O60733-4;Isoform Ankyrin-iPLA2-2;Position 500-806:Missing;In isoform Ankyrin-iPLA2-2. VSP_000280 Y Y UniProtKB AAP 1/9/2013 128 1000001126 Faith O60733 8398 PLA2G6 Homo sapiens 9606 Feature/splice variant O60733-4;Isoform Ankyrin-iPLA2-2;Position 71-142:Missing;In isoform Ankyrin-iPLA2-2. VSP_000277 Y Y UniProtKB AAP 1/9/2013 128 1000001127 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/alternative products/isoform Q6P1J6-4;Isoform 4 VSP_032229 VSP_032230 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 11/28/2012 77 1000001128 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/alternative products/isoform Q6P1J6-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 11/28/2012 77 1000001129 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/alternative products/isoform Q6P1J6-2;Isoform 2 VSP_032226 VSP_032231 VSP_032232 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 77 1000001130 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/alternative products/isoform Q6P1J6-3;Isoform 3 VSP_032227 VSP_032228 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 77 1000001131 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/alternative products/isoform Q6P1J6-5;Isoform 5 VSP_032225 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 77 1000001132 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/sequence variant G821R; In dbSNP:rs10201128. VAR_039795 rs10201128 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 77 1000001133 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/sequence variant M708V; In dbSNP:rs11681826. VAR_039794 rs11681826 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 77 1000001134 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/sequence variant A1318V; In dbSNP:rs2199619. VAR_039797 rs2199619 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 77 1000001135 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/sequence variant A987V; In dbSNP:rs34289907. VAR_061358 rs34289907 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 77 1000001136 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/sequence variant V212L; In dbSNP:rs6753929. VAR_039793 rs6753929 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 77 1000001137 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/sequence variant H879D; In dbSNP:rs7601771. VAR_039796 rs7601771 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 77 1000001138 Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-2;Isoform 2;Position 1-312:Missing;In isoform 2. VSP_032226 Y Y UniProtKB AAP 11/28/2012 77 1000001139 Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-2;Isoform 2;Position 774-800:SAGGDGSLENVTTLPNILREFNRNLTG->RESKPGFLSDSWVSKSNRKCTRKAPNP;In isoform 2. VSP_032231 Y Y UniProtKB AAP 11/28/2012 77 1000001140 Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-2;Isoform 2;Position 801-1458:Missing;In isoform 2. VSP_032232 Y Y UniProtKB AAP 11/28/2012 77 1000001141 Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-3;Isoform 3;Position 184:Q->QQAPSLSTVLLS;In isoform 3. VSP_032227 Y Y UniProtKB AAP 11/28/2012 77 1000001142 Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-3;Isoform 3;Position 523-544:Missing;In isoform 3. VSP_032228 Y Y UniProtKB AAP 11/28/2012 77 1000001143 Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-5;Isoform 5;Position 1-1035:Missing;In isoform 5. VSP_032225 Y Y UniProtKB AAP 11/28/2012 77 1000001144 Faith/Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-4;Isoform 4;Position 750-760:AGNGIGSKPDD->VRTLGPQVVWG;In isoform 4. VSP_032229 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 77 1000001145 Faith/Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-4;Isoform 4;Position 761-1458:Missing;In isoform 4. VSP_032230 Y N UniProtKB No experimental confirmation available. AAP 11/28/2012 77 1000001146 Faith Q13258 5729 PTGDR Homo sapiens 9606 Feature/sequence variant R7C; In dbSNP:rs41311442. VAR_033482 rs41311442 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 116 1000001147 Faith Q13258 5729 PTGDR Homo sapiens 9606 Feature/sequence variant G198E; In dbSNP:rs41312444. VAR_054975 rs41312444 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 116 1000001148 Faith Q13258 5729 PTGDR Homo sapiens 9606 Feature/sequence variant E301A; In dbSNP:rs41312504. VAR_033483 rs41312504 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 116 1000001149 Faith Q13258 5729 PTGDR Homo sapiens 9606 Feature/sequence variant R332Q; In dbSNP:rs41312506. VAR_054976 rs41312506 Y Y ECO:0000006 submission: UniProtKB AAP 1/9/2013 116 1000001150 Rose Q13258 5729 PTGDR Homo sapiens 9606 Comment/alternative products/isoform Q13258-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 116 1000001151 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site D330A; 45% increases internalization of PTGDR2. Y Y ECO:0000006 PubMed:20035740 UniProtKB AAP 1/9/2013 102 1000001152 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site E332A; 45% increases internalization of PTGDR2. Y Y ECO:0000006 PubMed:20035740 UniProtKB AAP 1/9/2013 102 1000001153 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site L333A; 45% increase in internalization of PTGDR2. Y Y ECO:0000006 PubMed:20035740 UniProtKB AAP 1/9/2013 102 1000001154 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site S331A; 45% increases internalization of PTGDR2. Y Y ECO:0000006 PubMed:20035740 UniProtKB AAP 1/9/2013 102 1000001155 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site T347A; Decreases in PKC-induced internalization of PTGDR2. Y Y ECO:0000006 PubMed:20035740 UniProtKB AAP 1/9/2013 102 1000001156 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/sequence variant V204A; In dbSNP:rs2467642. VAR_063131 rs2467642 Y Y ECO:0000006 PubMed:9973380 PubMed:10036181 submission: submission: PubMed:15489334 UniProtKB AAP 1/9/2013 102 1000001157 Rose Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/alternative products/isoform Q9Y5Y4-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 102 1000001158 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site C65A; Loss of enzyme activity. Y Y ECO:0000006 PubMed:20667974 UniProtKB AAP 2/6/2013 132 1000001159 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site F83A; Reduces enzyme activity about five-fold. Y Y ECO:0000006 PubMed:20667974 UniProtKB AAP 2/6/2013 132 1000001160 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site K59A; Increases enzyme activity about two-fold. Y Y ECO:0000006 PubMed:20667974 UniProtKB AAP 2/6/2013 132 1000001161 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site L131A; Reduces enzyme activity almost ten-fold. Y Y ECO:0000006 PubMed:20667974 UniProtKB AAP 2/6/2013 132 1000001162 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site L79A; Reduces enzyme activity over ten-fold. Y Y ECO:0000006 PubMed:20667974 UniProtKB AAP 2/6/2013 132 1000001163 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site M64A; Reduces enzyme activity almost ten-fold. Y Y ECO:0000006 PubMed:20667974 UniProtKB AAP 2/6/2013 132 1000001164 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site Y149A; Increases enzyme activity about two-fold. Y Y ECO:0000006 PubMed:20667974 UniProtKB AAP 2/6/2013 132 1000001165 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/sequence variant R56Q; In dbSNP:rs11552179. VAR_004273 rs11552179 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 132 1000001166 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/alternative products/isoform P41222-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 132 1000001167 Rose P34995 5731 PTGER1 Homo sapiens 9606 Feature/sequence variant A71T; In dbSNP:rs1057362. VAR_017190 rs1057362 Y Y ECO:0000006 PubMed:8253813 submission: UniProtKB AAP 1/9/2013 112 1000001168 Rose P34995 5731 PTGER1 Homo sapiens 9606 Feature/sequence variant T223M; In dbSNP:rs28364042. VAR_029216 rs28364042 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 1000001169 Rose P34995 5731 PTGER1 Homo sapiens 9606 Feature/sequence variant H256R; In dbSNP:rs7249305. VAR_029217 rs7249305 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 112 1000001170 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/alternative products/isoform P34995-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 112 1000001171 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-2;Isoform EP3C;EP3-II VSP_001935 Known as EP3D in PubMed:8075855. Y Y ECO:0000311 UniProtKB AAP 1/9/2013 131 1000001172 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-3;Isoform EP3B;EP3-III VSP_001936 Known as EP3E in PubMed:8075855. Y Y ECO:0000311 UniProtKB AAP 1/9/2013 131 1000001173 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-4;Isoform EP3D;EP3-IV VSP_001937 Known as EP3F in PubMed:8075855. Y Y ECO:0000311 UniProtKB AAP 1/9/2013 131 1000001174 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-1;Isoform EP3A;EP(3-Ic) Y Y ECO:0000311 UniProtKB full length AAP 1/9/2013 131 1000001175 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-5;Isoform EP3E VSP_001938 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 131 1000001176 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-6;Isoform EP3F VSP_001939 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 131 1000001177 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-7;Isoform EP3G VSP_013271 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 131 1000001178 Rose P43115 5733 PTGER3 Homo sapiens 9606 Feature/sequence variant N366S; In dbSNP:rs13306014. VAR_029218 rs13306014 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 131 1000001179 Rose P43115 5733 PTGER3 Homo sapiens 9606 Feature/sequence variant T319M; In dbSNP:rs13306020. VAR_049436 rs13306020 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 131 1000001180 Rose P43115 5733 PTGER3 Homo sapiens 9606 Feature/sequence variant M169L; In dbSNP:rs5670. VAR_014694 rs5670 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 131 1000001181 Rose P43115 5733 PTGER3 Homo sapiens 9606 Feature/sequence variant P375L; In dbSNP:rs5694. VAR_014695 rs5694 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 131 1000001182 Faith P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-2;Isoform EP3C;EP3-II;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->VANAVSSCSNDGQKGQPISLSNEIIQTEA;In isoform EP3C. VSP_001935 Y Y UniProtKB AAP 1/9/2013 131 1000001183 Faith P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-3;Isoform EP3B;EP3-III;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->EEFWGN;In isoform EP3B. VSP_001936 Y Y UniProtKB AAP 1/9/2013 131 1000001184 Faith P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-4;Isoform EP3D;EP3-IV;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->MRKRRLREQEEFWGN;In isoform EP3D. VSP_001937 Y Y UniProtKB AAP 1/9/2013 131 1000001185 Faith P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-5;Isoform EP3E;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->MRKRRLREQLICSLRTLRYRGQLHIVGKYKPIVC;In isoform EP3E. VSP_001938 Y Y UniProtKB AAP 1/9/2013 131 1000001186 Faith P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-6;Isoform EP3F;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->MRKRRLREQAPLLPTPTVIDPSRFCAQPFRWFLDLSFPAMSSSHPQLPLTLASFKLLREPCSVQLS;In isoform EP3F. VSP_001939 Y Y UniProtKB AAP 1/9/2013 131 1000001187 Faith P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-7;Isoform EP3G;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->EMGPDGRCFCHAWRQVPRTWCSSHDREPCSVQLS;In isoform EP3G. VSP_013271 Y Y UniProtKB AAP 1/9/2013 131 1000001188 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site E66A; Reduces enzyme activity by 50%. Y Y ECO:0000006 PubMed:18682561 UniProtKB AAP 2/6/2013 100 1000001189 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site H72A; Reduces enzyme activity by 70%. Y Y ECO:0000006 PubMed:18682561 UniProtKB AAP 2/6/2013 100 1000001190 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site R110{AS}; Loss of enzyme activity. Y Y ECO:0000006 PubMed:18682561 UniProtKB AAP 2/6/2013 100 1000001191 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site R67A; Loss of enzyme activity. Y Y ECO:0000006 PubMed:18682561 UniProtKB AAP 2/6/2013 100 1000001192 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site R70A; Slightly reduced enzyme activity. Y Y ECO:0000006 PubMed:18682561 UniProtKB AAP 2/6/2013 100 1000001193 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site Y117A; Loss of enzyme activity. Y Y ECO:0000006 PubMed:18682561 UniProtKB AAP 2/6/2013 100 1000001194 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site Y117F; No effect on enzyme activity. Y Y ECO:0000006 PubMed:18682561 UniProtKB AAP 2/6/2013 100 1000001195 Rose O14684 9536 PTGES Homo sapiens 9606 Comment/alternative products/isoform O14684-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 100 1000001196 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Feature/mutagenesis site C110S; Loss of function. Y Y ECO:0000006 PubMed:12804604 UniProtKB AAP 2/6/2013 110 1000001197 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Feature/mutagenesis site C113S; Does not strongly affect enzyme activity. Y Y ECO:0000006 PubMed:12804604 UniProtKB AAP 2/6/2013 110 1000001198 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Feature/sequence variant R298H; In dbSNP:rs13283456. VAR_049494 rs13283456 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 110 1000001199 Rose Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/alternative products/isoform Q9H7Z7-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 110 1000001200 Rose P43088 5737 PTGFR Homo sapiens 9606 Comment/alternative products/isoform P43088-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 1/9/2013 120 1000001201 Rose P43088 5737 PTGFR Homo sapiens 9606 Comment/alternative products/isoform P43088-2;Isoform 2;FP(S) VSP_042025 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 120 1000001202 Faith P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-2;Isoform 2;FP(S);Position 267-359:VTMANIGINGNHSLETCETTLFALRMATWNQILDPWVYILLRKAVLKNLYKLASQCCGVHVISLHIWELSSIKNSLKVAAISESPVAEKSAST->GYRIILNGKEKYKVYEEQSDFLHRLQWPTLE;In isoform 2. VSP_042025 Y Y UniProtKB AAP 1/9/2013 120 1000001203 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/mutagenesis site C308S; Reduced palmitoylation, coupling to G protein unaffected. Abolished palmitoylation and coupling to G protein; when associated with S-311. Y Y ECO:0000006 PubMed:12488443 UniProtKB AAP 1/9/2013 125 1000001204 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/mutagenesis site C309S; No effect on palmitoylation level. Y Y ECO:0000006 PubMed:12488443 UniProtKB AAP 1/9/2013 125 1000001205 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/mutagenesis site C311S; Reduced palmitoylation, coupling to G protein unaffected. Abolished palmitoylation and coupling to G protein; when associated with S-308. Y Y ECO:0000006 PubMed:12488443 UniProtKB AAP 1/9/2013 125 1000001206 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/mutagenesis site C383S; Abolishes isoprenylation. Y Y ECO:0000006 PubMed:11895442 UniProtKB AAP 1/9/2013 125 1000001207 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/sequence variant V25M; In dbSNP:rs2229127. VAR_024260 rs2229127 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 125 1000001208 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/sequence variant S319W; In dbSNP:rs28590598. VAR_061226 rs28590598 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 125 1000001209 Rose P43119 5739 PTGIR Homo sapiens 9606 Comment/alternative products/isoform P43119-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 125 1000001210 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant P500S; In dbSNP:rs5584. VAR_014637 rs5584 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 129 1000001211 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant R379S; In allele CYP8A1*4; dbSNP:rs56195291. VAR_010917 rs56195291 Y Y ECO:0000006 PubMed:11281454 UniProtKB AAP 2/6/2013 129 1000001212 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant S118R; In allele CYP8A1*3; dbSNP:rs5622. VAR_010916 rs5622 Y Y ECO:0000006 PubMed:11281454 UniProtKB AAP 2/6/2013 129 1000001213 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant E154A; In dbSNP:rs5623. VAR_014634 rs5623 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 129 1000001214 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant F171L; In dbSNP:rs5624. VAR_014635 rs5624 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 129 1000001215 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant R236C; In dbSNP:rs5626. VAR_014636 rs5626 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 129 1000001216 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant P38L; In allele CYP8A1*2. VAR_010915 Y Y ECO:0000006 PubMed:11281454 UniProtKB AAP 2/6/2013 129 1000001217 Rose Q16647 5740 PTGIS Homo sapiens 9606 Comment/alternative products/isoform Q16647-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 129 1000001218 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/alternative products/isoform Q14914-2;Isoform 2 VSP_044652 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 1/9/2013 125 1000001219 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/alternative products/isoform Q14914-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 1/9/2013 125 1000001220 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Feature/sequence variant A27S; In dbSNP:rs1053959. VAR_023111 rs1053959 Y Y ECO:0000006 PubMed:14702039 submission: PubMed:15489334 UniProtKB AAP 1/9/2013 125 1000001221 Faith/Rose Q14914 22949 PTGR1 Homo sapiens 9606 Feature/splice variant Q14914-2;Isoform 2;Position 294-329:GKIQYKEYIIEGFENMPAAFMGMLKGDNLGKTIVKA->IKRENEED;In isoform 2. VSP_044652 Y N UniProtKB No experimental confirmation available. AAP 1/9/2013 125 1000001222 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/alternative products/isoform P23219-1;Isoform Long Y Y ECO:0000311 UniProtKB full length AAP 2/6/2013 151 1000001223 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/alternative products/isoform P23219-2;Isoform Short VSP_004673 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 151 1000001224 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/mutagenesis site S529N; Abolishes cyclooxygenase activity. Y Y ECO:0000006 PubMed:1907252 UniProtKB AAP 2/6/2013 151 1000001225 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant R149L; In dbSNP:rs10306140. VAR_019162 rs10306140 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 151 1000001226 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant W8R; In dbSNP:rs1236913. VAR_013451 rs1236913 Y Y ECO:0000006 PubMed:2512924 PubMed:1907252 PubMed:1734857 PubMed:1587858 PubMed:12192304 PubMed:14702039 submission: submission: PubMed:15489334 UniProtKB AAP 2/6/2013 151 1000001227 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant P17L; In dbSNP:rs3842787. VAR_013452 rs3842787 Y Y ECO:0000006 PubMed:12192304 submission: UniProtKB AAP 2/6/2013 151 1000001228 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant R53H; In dbSNP:rs3842789. VAR_019161 rs3842789 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 151 1000001229 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant K185T; In dbSNP:rs3842792. VAR_056663 rs3842792 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 151 1000001230 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant K341R; In dbSNP:rs3842799. VAR_056664 rs3842799 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 151 1000001231 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant L237M; In dbSNP:rs5789. VAR_019163 rs5789 Y Y ECO:0000006 submission: PubMed:15308583 UniProtKB AAP 2/6/2013 151 1000001232 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant K359R; In dbSNP:rs5791. VAR_013453 rs5791 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 151 1000001233 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant I443V; In dbSNP:rs5792. VAR_013454 rs5792 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 151 1000001234 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant V481I; In dbSNP:rs5794. VAR_028017 rs5794 Y Y ECO:0000006 PubMed:15308583 UniProtKB AAP 2/6/2013 151 1000001235 Faith P23219 5742 PTGS1 Homo sapiens 9606 Feature/splice variant P23219-2;Isoform Short;Position 396-432:Missing;In isoform Short. VSP_004673 Y Y UniProtKB AAP 2/6/2013 151 1000001236 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/mutagenesis site C526S; Prevents activation by nitric oxid (NO). Y Y ECO:0000006 PubMed:16373578 UniProtKB AAP 2/6/2013 143 1000001237 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/mutagenesis site C555S; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:16373578 UniProtKB AAP 2/6/2013 143 1000001238 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/mutagenesis site C561S; Does not affect activation by nitric oxid (NO). Y Y ECO:0000006 PubMed:16373578 UniProtKB AAP 2/6/2013 143 1000001239 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/sequence variant R228H; In dbSNP:rs3218622. VAR_016262 rs3218622 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 143 1000001240 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/sequence variant G587R; In dbSNP:rs3218625. VAR_016264 rs3218625 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 143 1000001241 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/sequence variant P428A; In dbSNP:rs4648279. VAR_016263 rs4648279 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 143 1000001242 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/sequence variant E488G; In dbSNP:rs5272. VAR_011980 rs5272 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 1000001243 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/sequence variant V511A; In dbSNP:rs5273. VAR_011981 rs5273 Y Y ECO:0000006 submission: PubMed:15308583 UniProtKB AAP 2/6/2013 143 1000001244 Rose P35354 5743 PTGS2 Homo sapiens 9606 Comment/alternative products/isoform P35354-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 143 1000001245 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/alternative products/isoform O14975-2;Isoform 2 VSP_042726 No experimental confirmation available. Y N ECO:0000035 UniProtKB Reviewed by Rose AAP 2/6/2013 106 1000001246 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/alternative products/isoform O14975-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 2/6/2013 106 1000001247 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Feature/sequence variant K48Q; In dbSNP:rs1648348. VAR_046533 rs1648348 Y Y ECO:0000006 PubMed:10198260 submission: PubMed:14702039 submission: UniProtKB AAP 2/6/2013 106 1000001248 Rose O14975 11001 SLC27A2 Homo sapiens 9606 Feature/splice variant O14975-2;Isoform 2;Position 230-282:Missing;In isoform 2. VSP_042726 Y N UniProtKB No experimental confirmation available. AAP 2/6/2013 106 1000001249 Faith P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-9;9 VSP_017014 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 5/1/2013 139 1000001250 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site Q580A; No effect. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP 5/1/2013 139 1000001251 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site T581A; No effect. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP 5/1/2013 139 1000001252 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site S585A; No effect. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP 5/1/2013 139 1000001253 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site N597A; Increases resistance to vincristine and decreases resistance to VP-16. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP 5/1/2013 139 1000001254 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site S604A; Increases estradiol glucuronide transport. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP 5/1/2013 139 1000001255 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site S605A; Decreases resistance to vincristine, VP-16 and doxorubicin. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP 5/1/2013 139 1000001256 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site D792A; Only partially affects protein maturation; impairs leukotriene C4 transport. Y Y ECO:0000006 PubMed:11469806 UniProtKB AAP 5/1/2013 139 1000001257 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site D792L; Impairs protein maturation and leukotriene C4 transport. Y Y ECO:0000006 PubMed:11469806 UniProtKB AAP 5/1/2013 139 1000001258 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site D793L; No effect on protein maturation and leukotriene C4 transport. Y Y ECO:0000006 PubMed:11469806 UniProtKB AAP 5/1/2013 139 1000001259 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site R1046D; Slightly impairs leukotriene C4 and estradiol glucuronide transport. Y Y ECO:0000006 PubMed:15208328 UniProtKB AAP 5/1/2013 139 1000001260 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site D1084R; Impairs leukotriene C4 and estradiol glucuronide transport. Y Y ECO:0000006 PubMed:15208328 UniProtKB AAP 5/1/2013 139 1000001261 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site E1089{ALNQ}; Decreases resistance to anthracyclines. Y Y ECO:0000006 PubMed:11278596 UniProtKB AAP 5/1/2013 139 1000001262 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site E1089D; No effect. Y Y ECO:0000006 PubMed:11278596 UniProtKB AAP 5/1/2013 139 1000001263 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site E1089K; Abolishes resistance to anthracyclines. Y Y ECO:0000006 PubMed:11278596 UniProtKB AAP 5/1/2013 139 1000001264 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site R1131E; Slightly impairs leukotriene C4 and estradiol glucuronide transport. Y Y ECO:0000006 PubMed:15208328 UniProtKB AAP 5/1/2013 139 1000001265 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site R1138{EK}; Strongly reduced transport of leukotriene C4, estradiol glucuronide and of glutathione. Y Y ECO:0000006 PubMed:16230346 UniProtKB AAP 5/1/2013 139 1000001266 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site K1141E; Reduced transport of leukotriene C4 and of glutathione. Y Y ECO:0000006 PubMed:16230346 UniProtKB AAP 5/1/2013 139 1000001267 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site K1141R; Reduced transport of glutathione. Y Y ECO:0000006 PubMed:16230346 UniProtKB AAP 5/1/2013 139 1000001268 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site R1142{EK}; Reduced transport of leukotriene C4, estradiol glucuronide and of glutathione. Y Y ECO:0000006 PubMed:16230346 UniProtKB AAP 5/1/2013 139 1000001269 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site W1246{AFY}; Impairs estradiol glucuronide transport. Y Y ECO:0000006 PubMed:11278867 UniProtKB AAP 5/1/2013 139 1000001270 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site W1246C; Impairs estradiol glucuronide transport; loss of resistance to alkaloid vincristine, cationic anthracyclines, epipodophyllotoxin VP-16, but not potassium antimony tartrate; partial loss of resistance to sodium arsenite. Y Y ECO:0000006 PubMed:11278867 UniProtKB AAP 5/1/2013 139 1000001271 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site K1333L; Impairs leukotriene C4 transport. Y Y ECO:0000006 PubMed:11469806 UniProtKB AAP 5/1/2013 139 1000001272 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site DELL; Impairs leukotriene C4 transport. Y Y UniProtKB AAP 5/1/2013 139 1000001273 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant C43S; In dbSNP:rs41395947. VAR_013317 rs41395947 Y Y ECO:0000006 PubMed:11266082 UniProtKB AAP 5/1/2013 139 1000001274 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant T73I; In dbSNP:rs41494447. VAR_013318 rs41494447 Y Y ECO:0000006 PubMed:11266082 UniProtKB AAP 5/1/2013 139 1000001275 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant M117T; VAR_013319 Y Y ECO:0000006 PubMed:1360704 PubMed:9344662 PubMed:11139250 UniProtKB AAP 5/1/2013 139 1000001276 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R433S; In dbSNP:rs60782127. VAR_013320 rs60782127 Y Y ECO:0000006 PubMed:11721885 PubMed:18987736 UniProtKB AAP 5/1/2013 139 1000001277 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R633Q; VAR_011488 Y Y ECO:0000006 PubMed:10835642 UniProtKB AAP 5/1/2013 139 1000001278 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant G671V; No effect on leukotriene C4 and estradiol glucuronide transport; dbSNP:rs45511401. VAR_011489 rs45511401 Y Y ECO:0000006 PubMed:11721885 PubMed:10835642 submission: PubMed:10811882 UniProtKB AAP 5/1/2013 139 1000001279 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R723Q; In dbSNP:rs4148356. VAR_013321 rs4148356 Y Y ECO:0000006 PubMed:11266082 submission: UniProtKB AAP 5/1/2013 139 1000001280 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant A861T; In dbSNP:rs45517537. VAR_055384 rs45517537 Y Y ECO:0000006 submission: UniProtKB AAP 5/1/2013 139 1000001281 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant C1047S; In dbSNP:rs13337489. VAR_055385 rs13337489 Y Y ECO:0000006 submission: UniProtKB AAP 5/1/2013 139 1000001282 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R1058Q; In dbSNP:rs41410450. VAR_013322 rs41410450 Y Y ECO:0000006 PubMed:11266082 UniProtKB AAP 5/1/2013 139 1000001283 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant V1146I; In dbSNP:rs28706727. VAR_055386 rs28706727 Y Y ECO:0000006 submission: UniProtKB AAP 5/1/2013 139 1000001284 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant S1512L; VAR_013323 Y Y ECO:0000006 PubMed:11139250 UniProtKB AAP 5/1/2013 139 1000001285 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-1;Isoform 1;Allexons Y Y UniProtKB full length AAP 5/1/2013 139 1000001286 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-2;Isoform 2;Delexon-17 VSP_000037 Y Y UniProtKB AAP 5/1/2013 139 1000001287 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-2;Isoform 2;Delexon-17;Position 706-764:Missing;In isoform 2, isoform 5, isoform 6 and isoform 8. VSP_000037 Y Y UniProtKB AAP 5/1/2013 139 1000001288 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-3;Isoform 3;Delexon-18 VSP_000038 Y Y UniProtKB AAP 5/1/2013 139 1000001289 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-3;Isoform 3;Delexon-18;Position 765-820:Missing;In isoform 3, isoform 5, isoform 7 and isoform 8. VSP_000038 Y Y UniProtKB AAP 5/1/2013 139 1000001290 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-4;Isoform 4;Delexon-30 VSP_000039 Y Y UniProtKB AAP 5/1/2013 139 1000001291 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-4;Isoform 4;Delexon-30;Position 1431-1495:Missing;In isoform 4, isoform 6, isoform 7 and isoform 8. VSP_000039 Y Y UniProtKB AAP 5/1/2013 139 1000001292 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-5;Isoform 5;Delexon-17-18 VSP_000037 VSP_000038 Y Y UniProtKB AAP 5/1/2013 139 1000001293 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-5;Isoform 5;Delexon-17-18;Position 706-764:Missing;In isoform 2, isoform 5, isoform 6 and isoform 8. VSP_000037 Y Y UniProtKB AAP 5/1/2013 139 1000001294 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-5;Isoform 5;Delexon-17-18;Position 765-820:Missing;In isoform 3, isoform 5, isoform 7 and isoform 8. VSP_000038 Y Y UniProtKB AAP 5/1/2013 139 1000001295 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-6;Isoform 6;Delexon-17-30 VSP_000037 VSP_000039 Y Y UniProtKB AAP 5/1/2013 139 1000001296 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-6;Isoform 6;Delexon-17-30;Position 706-764:Missing;In isoform 2, isoform 5, isoform 6 and isoform 8. VSP_000037 Y Y UniProtKB AAP 5/1/2013 139 1000001297 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-6;Isoform 6;Delexon-17-30;Position 1431-1495:Missing;In isoform 4, isoform 6, isoform 7 and isoform 8. VSP_000039 Y Y UniProtKB AAP 5/1/2013 139 1000001298 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-7;Isoform 7;Delexon-18-30 VSP_000038 VSP_000039 Y Y UniProtKB AAP 5/1/2013 139 1000001299 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-7;Isoform 7;Delexon-18-30;Position 765-820:Missing;In isoform 3, isoform 5, isoform 7 and isoform 8. VSP_000038 Y Y UniProtKB AAP 5/1/2013 139 1000001300 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-7;Isoform 7;Delexon-18-30;Position 1431-1495:Missing;In isoform 4, isoform 6, isoform 7 and isoform 8. VSP_000039 Y Y UniProtKB AAP 5/1/2013 139 1000001301 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-8;Isoform 8;Delexon-17-18-30 VSP_000037 VSP_000038 VSP_000039 Y Y UniProtKB AAP 5/1/2013 139 1000001302 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-8;Isoform 8;Delexon-17-18-30;Position 706-764:Missing;In isoform 2, isoform 5, isoform 6 and isoform 8. VSP_000037 Y Y UniProtKB AAP 5/1/2013 139 1000001303 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-8;Isoform 8;Delexon-17-18-30;Position 765-820:Missing;In isoform 3, isoform 5, isoform 7 and isoform 8. VSP_000038 Y Y UniProtKB AAP 5/1/2013 139 1000001304 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-8;Isoform 8;Delexon-17-18-30;Position 1431-1495:Missing;In isoform 4, isoform 6, isoform 7 and isoform 8. VSP_000039 Y Y UniProtKB AAP 5/1/2013 139 1000001305 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-9;Isoform 9 VSP_017014 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 5/1/2013 139 1000001306 Rose P35610 6646 SOAT1 Homo sapiens 9606 Comment/alternative products/isoform P35610-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 2/6/2013 124 1000001307 Rose P35610 6646 SOAT1 Homo sapiens 9606 Comment/alternative products/isoform P35610-2;Isoform 2 VSP_045331 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 1000001308 Rose P35610 6646 SOAT1 Homo sapiens 9606 Comment/alternative products/isoform P35610-3;Isoform 3 VSP_045330 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 124 1000001309 Rose P35610 6646 SOAT1 Homo sapiens 9606 Feature/sequence variant Q526R; In dbSNP:rs13306731. VAR_052031 rs13306731 Y Y ECO:0000006 PubMed:8407899 UniProtKB AAP 2/6/2013 124 1000001310 Faith P35610 6646 SOAT1 Homo sapiens 9606 Feature/splice variant P35610-2;Isoform 2;Position 1-59:MVGEEKMSLRNRLSKSRENPEEDEDQRNPAKESLETPSNGRIDIKQLIAKKIKLTAEAE->M;In isoform 2. VSP_045331 Y Y UniProtKB AAP 2/6/2013 124 1000001311 Faith P35610 6646 SOAT1 Homo sapiens 9606 Feature/splice variant P35610-3;Isoform 3;Position 1-65:Missing;In isoform 3. VSP_045330 Y Y UniProtKB AAP 2/6/2013 124 1000001312 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/alternative products/isoform P21731-3;Isoform 1;Alpha VSP_001925 Ref.2 (AAA58957) sequence differs from that shown due to frameshifts in positions 330 and 386. Y Y ECO:0000311 UniProtKB full length AAP 1/9/2013 138 1000001313 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/alternative products/isoform P21731-2;Isoform 2;Beta Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 1000001314 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/mutagenesis site L291R; Suppresses antagonist binding. Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 1000001315 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/mutagenesis site R295Q; Reduces antagonist binding. Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 1000001316 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/mutagenesis site W299L; Reduces antagonist binding. Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 1000001317 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/mutagenesis site W299R; Reduces antagonist binding. Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 1000001318 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant R60L; In BDPLT13; does not affect TXA2 binding; defective interaction with G proteins; impairs phospholipase C and adenylyl cyclase activation; isoform 1; has no effect on adenylyl cyclase inhibition; isoform 2; dbSNP:rs34377097. VAR_003515 rs34377097 Y Y ECO:0000006 PubMed:8613548 PubMed:7929844 UniProtKB AAP 1/9/2013 138 1000001319 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant C68S; In dbSNP:rs5743. VAR_014688 rs5743 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 1000001320 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant V80E; In dbSNP:rs5744. VAR_014689 rs5744 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 1000001321 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant E94V; In dbSNP:rs5746. VAR_014690 rs5746 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 1000001322 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant A160T; In dbSNP:rs5749. VAR_014691 rs5749 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 1000001323 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant V176E; In dbSNP:rs5750. VAR_014692 rs5750 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 1000001324 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant V217I; In dbSNP:rs5751. VAR_014693 rs5751 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 138 1000001325 Faith P21731 6915 TBXA2R Homo sapiens 9606 Feature/splice variant P21731-2;Isoform 2;Beta;Position 329-343:SLSLQPQLTQRSGLQ->RSLTLWPSLEYSGTISAHCNLRLPGSSDSRASASRAAGITGVSHCARPCMLFDPEFDLLAGVQLLPFEPPTGKALSRKD;In isoform 2. VSP_001925 Y Y UniProtKB AAP 1/9/2013 138 1000001326 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L512P; In dbSNP:rs13306050. VAR_044391 rs13306050 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 1000001327 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L70P; In dbSNP:rs13306050. VAR_058465 rs13306050 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 1000001328 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant P511L; In dbSNP:rs13306050. VAR_055566 rs13306050 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 1000001329 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant E387K; In dbSNP:rs3735354. VAR_055565 rs3735354 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 1000001330 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant E388K; In dbSNP:rs3735354. VAR_018379 rs3735354 Y Y ECO:0000006 PubMed:12721789 UniProtKB AAP 2/6/2013 147 1000001331 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant A429T; In dbSNP:rs4526. VAR_014161 rs4526 Y Y ECO:0000006 PubMed:10391209 PubMed:10391210 UniProtKB AAP 2/6/2013 147 1000001332 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant Q416E; In allele CYP5A1*6; dbSNP:rs4528. VAR_010922 rs4528 Y Y ECO:0000006 PubMed:11465543 PubMed:10391209 PubMed:10391210 UniProtKB AAP 2/6/2013 147 1000001333 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L356V; In allele CYP5A1*5; dbSNP:rs4529. VAR_010921 rs4529 Y Y ECO:0000006 PubMed:11465543 PubMed:10391209 PubMed:10391210 UniProtKB AAP 2/6/2013 147 1000001334 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L357V; In dbSNP:rs4529. VAR_044387 rs4529 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 1000001335 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L70V; In dbSNP:rs4529. VAR_058466 rs4529 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 1000001336 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant G389V; In dbSNP:rs5760. VAR_016158 rs5760 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 1000001337 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R424C; In dbSNP:rs5762. VAR_014160 rs5762 Y Y ECO:0000006 PubMed:10391210 UniProtKB AAP 2/6/2013 147 1000001338 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant T450N; In allele CYP5A1*8; dbSNP:rs5763. VAR_010924 rs5763 Y Y ECO:0000006 PubMed:11465543 UniProtKB AAP 2/6/2013 147 1000001339 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant D160E; In allele CYP5A1*3; dbSNP:rs5768. VAR_010919 rs5768 Y Y ECO:0000006 PubMed:11465543 PubMed:10391210 UniProtKB AAP 2/6/2013 147 1000001340 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant K257E; In dbSNP:rs5769. VAR_014647 rs5769 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 1000001341 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R260G; In dbSNP:rs5770. VAR_014648 rs5770 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 1000001342 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant Q316K; In dbSNP:rs5771. VAR_014649 rs5771 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 147 1000001343 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L162I; In dbSNP:rs6137. VAR_014158 rs6137 Y Y ECO:0000006 PubMed:10391209 UniProtKB AAP 2/6/2013 147 1000001344 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R60H; In allele CYP5A1*2; dbSNP:rs6138. VAR_014157 rs6138 Y Y ECO:0000006 PubMed:11465543 PubMed:10391209 UniProtKB AAP 2/6/2013 147 1000001345 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant I331T; In dbSNP:rs6140. VAR_014159 rs6140 Y Y ECO:0000006 PubMed:10391209 UniProtKB AAP 2/6/2013 147 1000001346 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant E449K; In allele CYP5A1*7. VAR_010923 Y Y ECO:0000006 PubMed:11465543 PubMed:12721789 UniProtKB AAP 2/6/2013 147 1000001347 Rose/Faith P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant G481W; In GHDD. MIM:231095 bone disease DOID:0080001 VAR_044389 Y Y ECO:0000006 PubMed:18264100 UniProtKB HDO term more general than OMIM. AAP 2/6/2013 147 1000001348 Rose/Faith P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L487P; In GHDD. MIM:231095 bone disease DOID:0080001 VAR_044390 Y Y ECO:0000006 PubMed:18264100 UniProtKB HDO term more general than OMIM. AAP 2/6/2013 147 1000001349 Rose/Faith P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L82P; In GHDD. MIM:231095 bone disease DOID:0080001 VAR_044386 Y Y ECO:0000006 PubMed:18264100 UniProtKB HDO term more general than OMIM. AAP 2/6/2013 147 1000001350 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant N245S; In allele CYP5A1*4. VAR_010920 Y Y ECO:0000006 PubMed:11465543 UniProtKB AAP 2/6/2013 147 1000001351 Rose/Faith P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R412Q; In GHDD. MIM:231095 bone disease DOID:0080001 VAR_044388 Y Y ECO:0000006 PubMed:18264100 UniProtKB HDO term more general than OMIM. AAP 2/6/2013 147 1000001352 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R465Q; In allele CYP5A1*9. VAR_010925 Y Y ECO:0000006 PubMed:11465543 UniProtKB AAP 2/6/2013 147 1000001353 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R501Q; VAR_018380 Y Y ECO:0000006 PubMed:12721789 UniProtKB AAP 2/6/2013 147 1000001354 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R85W; In a breast cancer sample; somatic mutation. breast cancer DOID:1612 VAR_036294 Y Y ECO:0000006 PubMed:16959974 UniProtKB AAP 2/6/2013 147 1000001355 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant V124I; VAR_018378 Y Y ECO:0000006 PubMed:12721789 UniProtKB AAP 2/6/2013 147 1000001356 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/alternative products/isoform P24557-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 147 1000001357 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Feature/mutagenesis site H23A; No effect on PPP2R1A-binding. Y Y ECO:0000006 PubMed:17374643 UniProtKB AAP 5/29/2013 109 1000001358 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Feature/mutagenesis site C113S; No effect on PPP2R1A-binding. Y Y ECO:0000006 PubMed:17374643 UniProtKB AAP 5/29/2013 109 1000001359 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/alternative products/isoform Q96AD5-1;Isoform 1 Y Y UniProtKB full length AAP 6/26/2013 87 1000001360 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/alternative products/isoform Q96AD5-2;Isoform 2 VSP_026421 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 6/26/2013 87 1000001361 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/splice variant Q96AD5-2;Isoform 2;Position 1-324:Missing;In isoform 2. VSP_026421 Y N UniProtKB No experimental confirmation available. AAP 6/26/2013 87 1000001362 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/sequence variant P195L; In NLSDM. VAR_032995 Y Y ECO:0000006 PubMed:17187067 UniProtKB AAP 6/26/2013 87 1000001363 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/sequence variant L219F; VAR_032996 Y Y ECO:0000006 PubMed:16644682 UniProtKB AAP 6/26/2013 87 1000001364 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/sequence variant N252K; In dbSNP:rs140201358. VAR_032997 rs140201358 Y Y UniProtKB AAP 6/26/2013 87 1000001365 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/sequence variant L481P; In dbSNP:rs1138693. VAR_032998 rs1138693 Y Y ECO:0000006 PubMed:16644682 submission: PubMed:15489334 UniProtKB AAP 6/26/2013 87 1000001366 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/mutagenesis site S47A; Reduces rate of lipid hydrolysis; does not affect the localization around the rim of the adiposomes. Y Y ECO:0000006 PubMed:16239926 PubMed:16150821 UniProtKB AAP 6/26/2013 87 1000001367 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-4;Isoform 4 Y Y UniProtKB AAP 6/26/2013 124 1000001368 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-1;Isoform 1;v2 VSP_037819 Y Y UniProtKB full length AAP 6/26/2013 124 1000001369 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-1;Isoform 1;v2;Position 1:M->MLTFFLVSGGSLWLFVEFVLSLLEKM;In isoform 1 and isoform 8. VSP_037819 Y Y UniProtKB AAP 6/26/2013 124 1000001370 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-2;Isoform 2;Short VSP_021024 VSP_000241 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 6/26/2013 124 1000001371 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-2;Isoform 2;Short;Position 306-330:KVIFPRQDDVLISFLPLAHMFERVI->SQWAPTCADVHISYLPLAHMFERMV;In isoform 3, isoform 2 and isoform 8. VSP_021024 Y N UniProtKB No experimental confirmation available. AAP 6/26/2013 124 1000001372 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-2;Isoform 2;Short;Position 653-697:VKAIHIHSDMFSVQNGLLTPTLKAKRPELREYFKKQIEELYSISM->DLPQCLIQIKVFSKY;In isoform 2. VSP_000241 Y N UniProtKB No experimental confirmation available. AAP 6/26/2013 124 1000001373 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-3;Isoform 3 VSP_021024 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 6/26/2013 124 1000001374 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-3;Isoform 3;Position 306-330:KVIFPRQDDVLISFLPLAHMFERVI->SQWAPTCADVHISYLPLAHMFERMV;In isoform 3, isoform 2 and isoform 8. VSP_021024 Y N UniProtKB No experimental confirmation available. AAP 6/26/2013 124 1000001375 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-5;Isoform 5;v4 VSP_037823 Y Y UniProtKB AAP 6/26/2013 124 1000001376 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-5;Isoform 5;v4;Position 306-312:Missing;In isoform 5. VSP_037823 Y Y UniProtKB AAP 6/26/2013 124 1000001377 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-6;Isoform 6;v5 VSP_037821 Y Y UniProtKB AAP 6/26/2013 124 1000001378 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-6;Isoform 6;v5;Position 192:T->TGLSCQEGASATASTQ;In isoform 6. VSP_037821 Y Y UniProtKB AAP 6/26/2013 124 1000001379 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-7;Isoform 7;v3 VSP_037820 VSP_037822 Y Y UniProtKB AAP 6/26/2013 124 1000001380 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-7;Isoform 7;v3;Position 31-65:Missing;In isoform 7. VSP_037820 Y Y UniProtKB AAP 6/26/2013 124 1000001381 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-7;Isoform 7;v3;Position 306-345:Missing;In isoform 7. VSP_037822 Y Y UniProtKB AAP 6/26/2013 124 1000001382 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-8;Isoform 8;v1 VSP_037819 VSP_021024 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 6/26/2013 124 1000001383 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-8;Isoform 8;v1;Position 1:M->MLTFFLVSGGSLWLFVEFVLSLLEKM;In isoform 1 and isoform 8. VSP_037819 Y N UniProtKB No experimental confirmation available. AAP 6/26/2013 124 1000001384 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-8;Isoform 8;v1;Position 306-330:KVIFPRQDDVLISFLPLAHMFERVI->SQWAPTCADVHISYLPLAHMFERMV;In isoform 3, isoform 2 and isoform 8. VSP_021024 Y N UniProtKB No experimental confirmation available. AAP 6/26/2013 124 1000001385 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-9;Isoform 9 VSP_046954 No experimental confirmation available. Y N UniProtKB Reviewed by Rose AAP 6/26/2013 124 1000001386 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-9;Isoform 9;Position 1:M->MPEFVLSLLEKM;In isoform 9. VSP_046954 Y N UniProtKB No experimental confirmation available. AAP 6/26/2013 124 1000001387 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Comment/alternative products/isoform P53816-1; Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 5/29/2013 109 1000001388 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/alternative products/isoform O14734-1; Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 5/29/2013 124 1000001389 Rose Q9NRZ5 56895 AGPAT4 Homo sapiens 9606 Comment/alternative products/isoform Q9NRZ5-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 102 1000001390 Rose Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/alternative products/isoform Q6E213-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 10/31/2012 72 1000001391 Rose Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/alternative products/isoform Q9Y271-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 103 1000001392 Rose Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/alternative products/isoform Q9NS75-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 107 1000001393 Rose Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/alternative products/isoform Q96SL4-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 105 1000001394 Rose Q8NF37 79888 LPCAT1 Homo sapiens 9606 Comment/alternative products/isoform Q8NF37-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 86 1000001395 Rose Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/alternative products/isoform Q99487-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 114 1000001396 Rose O15496 8399 PLA2G10 Homo sapiens 9606 Comment/alternative products/isoform O15496-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 125 1000001397 Rose Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/alternative products/isoform Q9BZM1-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 114 1000001398 Rose Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/alternative products/isoform Q9BX93-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 99 1000001399 Rose Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/alternative products/isoform Q9NZK7-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 102 1000001400 Rose P43116 5732 PTGER2 Homo sapiens 9606 Comment/alternative products/isoform P43116-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 112 1000001401 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/alternative products/isoform P35408-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 124 1000001402 Rose Q15185 10728 PTGES3 Homo sapiens 9606 Comment/alternative products/isoform Q15185-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 125 1000001403