sujigwak/NVAR huggingface dataset:
UniProt ID: P28223
Variant: A -> V at position 447-447
Variant annotation: in dbSNP:rs6308
Protein function: (Microbial infection) Acts as a receptor for human JC polyomavirus/JCPyV.
Reference sequence:
MDILCEENTSLSSTTNSLMQLNDDTRLYSNDFNSGEANTSDAFNWTVDSENRTNLSCEGCLSPSCLSLLHLQEKNWSALLTAVVIILTIAGNILVIMAVSLEKKLQNATNYFLMSLAIADMLLGFLVMPVSMLTILYGYRWPLPSKLCAVWIYLDVLFSTASIMHLCAISLDRYVAIQNPIHHSRFNSRTKAFLKIIAVWTISVGISMPIPVFGLQDDSKVFKEGSCLLADDNFVLIGSFVSFFIPLTIMVITYFLTIKSLQKEATLCVSDLGTRAKLASFSFLPQSSLSSEKLFQRSIHREPGSYTGRRTMQSISNEQKACKVLGIVFFLFVVMWCPFFITNIMAVICKESCNEDVIGALLNVFVWIGYLSSAVNPLVYTLFNKTYRSAFSRYIQCQYKENKKPLQLILVNTIPALAYKSSQLQMGQKKNSKQDAKTTDNDCSMVALGKQHSEEASKDNSDGVNEKVSCV
UniProt ID: P28223
Variant: H -> Y at position 452-452
Variant annotation: in dbSNP:rs6314
Protein function: (Microbial infection) Acts as a receptor for human JC polyomavirus/JCPyV.
Reference sequence:
MDILCEENTSLSSTTNSLMQLNDDTRLYSNDFNSGEANTSDAFNWTVDSENRTNLSCEGCLSPSCLSLLHLQEKNWSALLTAVVIILTIAGNILVIMAVSLEKKLQNATNYFLMSLAIADMLLGFLVMPVSMLTILYGYRWPLPSKLCAVWIYLDVLFSTASIMHLCAISLDRYVAIQNPIHHSRFNSRTKAFLKIIAVWTISVGISMPIPVFGLQDDSKVFKEGSCLLADDNFVLIGSFVSFFIPLTIMVITYFLTIKSLQKEATLCVSDLGTRAKLASFSFLPQSSLSSEKLFQRSIHREPGSYTGRRTMQSISNEQKACKVLGIVFFLFVVMWCPFFITNIMAVICKESCNEDVIGALLNVFVWIGYLSSAVNPLVYTLFNKTYRSAFSRYIQCQYKENKKPLQLILVNTIPALAYKSSQLQMGQKKNSKQDAKTTDNDCSMVALGKQHSEEASKDNSDGVNEKVSCV
UniProt ID: P28235
Variant: C -> Q at position 54-54
Variant annotation: requires 2 nucleotide substitutions
Protein function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Reference sequence:
MGDWGFLEKLLDQVQEHSTVVGKIWLTVLFIFRILILGLAGESVWGDEQSDFECNTAQPGCTNVCYDQAFPISHIRYWVLQFLFVSTPTLIYLGHVIYLSRREERLRQKEGELRALPSKDLHVERALAAIEHQMAKISVAEDGRLRIRGALMGTYVVSVLCKSVLEAGFLYGQWRLYGWTMEPVFVCQRAPCPHIVDCYVSRPTEKTIFIIFMLVVGVISLVLNLLELVHLLCRCVSREIKARRDHDARPAQGSASDPYPEQVFFYLPMGEGPSSPPCPTYNGLSSTEQNWANLTTEERLTSSRPPPFVNTAPQGGRKSPSRPNSSASKKQYV
UniProt ID: P28235
Variant: P -> A at position 59-59
Protein function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Reference sequence:
MGDWGFLEKLLDQVQEHSTVVGKIWLTVLFIFRILILGLAGESVWGDEQSDFECNTAQPGCTNVCYDQAFPISHIRYWVLQFLFVSTPTLIYLGHVIYLSRREERLRQKEGELRALPSKDLHVERALAAIEHQMAKISVAEDGRLRIRGALMGTYVVSVLCKSVLEAGFLYGQWRLYGWTMEPVFVCQRAPCPHIVDCYVSRPTEKTIFIIFMLVVGVISLVLNLLELVHLLCRCVSREIKARRDHDARPAQGSASDPYPEQVFFYLPMGEGPSSPPCPTYNGLSSTEQNWANLTTEERLTSSRPPPFVNTAPQGGRKSPSRPNSSASKKQYV
UniProt ID: P28272
Variant: E -> K at position 58-58
Variant annotation: in strain: CLIB 95, CLIB 219, CLIB 382, CLIB 388, CLIB 413, CLIB 556, CLIB 630, K1, R12, R13, YIIc12 and YIIc17
Protein function: Catalyzes the conversion of dihydroorotate to orotate with fumarate as the electron acceptor. Molecular oxygen can replace fumarate in vitro. Does not use oxaloacetate or NAD or NADP as electron acceptors.
Reference sequence:
MTASLTTKFLNNTYENPFMNASGVHCMTTQELDELANSKAGAFITKSATTLEREGNPEPRYISVPLGSINSMGLPNEGIDYYLSYVLNRQKNYPDAPAIFFSVAGMSIDENLNLLRKIQDSEFNGITELNLSCPNVPGKPQVAYDFDLTKETLEKVFAFFKKPLGVKLPPYFDFAHFDIMAKILNEFPLAYVNSINSIGNGLFIDVEKESVVVKPKNGFGGIGGEYVKPTALANVRAFYTRLRPEIKVIGTGGIKSGKDAFEHLLCGASMLQIGTELQKEGVKIFERIEKELKDIMEAKGYTSIDQFRGKLNSI
UniProt ID: P28286
Variant: D -> V at position 14-14
Variant annotation: in strain: NC-100
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins which inhibit adenylate cyclase.
Reference sequence:
MLKTVTTAMAAGDDDVPASILEIELPAILLNESLFIELNGNLTQLVDTTSNLSQIVWNRSINGNGNSNTFDLVDDEQERAAVEFWLLVKMIAMAVVLGLMILVTIIGNVFVIAAIILERNLQNVANYLVASLAVADLFVACLVMPLGAVYEISNGWILGPELCDIWTSCDVLCCTASILHLVAIAADRYWTVTNIDYNNLRTPRRVFLMIFCVWFAALIVSLAPQFGWKDPDYMKRIEEQHCMVSQDVGYQIFATCCTFYVPLLVILFLYWKIYIIARKRIQRRAQKSFNVTLTETDCDSAVRELKKERSKRRAERKRLEAGERTPVDGDGTGGQLQRRTRKRMRICFGRNTNTANVVAGSEGAVARSMAAIAVDFASLAITREETEFSTSNYDNKSHAGTELTTVSSDADDYRTSNANEIITLSQQVAHATQHHLIASHLNAITPLAQSIAMGGVGCLTTTTPSEKALSGAGTVAGAVAGGSGSGSGEEGAGTEGKNAGVGLGGVLASIANPHQKLAKRRQLLEAKRERKAAQTLAIITGAFVICWLPFFVMALTMSLCKECEIHTAVASLFLWLGYFNSTLNPVIYTIFNPEFRRAFKRILFGRKAAARARSAKI
UniProt ID: P28286
Variant: G -> R at position 40-40
Variant annotation: in strain: CA-128, NC-005, NC-114 and NC-115
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins which inhibit adenylate cyclase.
Reference sequence:
MLKTVTTAMAAGDDDVPASILEIELPAILLNESLFIELNGNLTQLVDTTSNLSQIVWNRSINGNGNSNTFDLVDDEQERAAVEFWLLVKMIAMAVVLGLMILVTIIGNVFVIAAIILERNLQNVANYLVASLAVADLFVACLVMPLGAVYEISNGWILGPELCDIWTSCDVLCCTASILHLVAIAADRYWTVTNIDYNNLRTPRRVFLMIFCVWFAALIVSLAPQFGWKDPDYMKRIEEQHCMVSQDVGYQIFATCCTFYVPLLVILFLYWKIYIIARKRIQRRAQKSFNVTLTETDCDSAVRELKKERSKRRAERKRLEAGERTPVDGDGTGGQLQRRTRKRMRICFGRNTNTANVVAGSEGAVARSMAAIAVDFASLAITREETEFSTSNYDNKSHAGTELTTVSSDADDYRTSNANEIITLSQQVAHATQHHLIASHLNAITPLAQSIAMGGVGCLTTTTPSEKALSGAGTVAGAVAGGSGSGSGEEGAGTEGKNAGVGLGGVLASIANPHQKLAKRRQLLEAKRERKAAQTLAIITGAFVICWLPFFVMALTMSLCKECEIHTAVASLFLWLGYFNSTLNPVIYTIFNPEFRRAFKRILFGRKAAARARSAKI
UniProt ID: P28286
Variant: I -> V at position 61-61
Variant annotation: in strain: CA-001, CA-002, CA-003, CA-008, CA-009, CA-010, CA-011, CA-012, CA-015, CA-017, CA-018, CA-023, CA-026, CA-027, CA-030, CA-034, CA-035, CA-037, CA-040, CA-041, CA-043, CA-044, CA-046, CA-047, CA-048, CA-052, CA-055, CA-056, CA-057, CA-058, CA-060, CA-061, CA-062, CA-063, CA-064, CA-065, CA-066, CA-068, CA-069, CA-070, CA-072, CA-075, CA-081, CA-086, CA-087, CA-088, CA-090, CA-091, CA-093, CA-095, CA-105, CA-113, CA-114, CA-120, CA-126, CA-128, CA-129, CA-130, CA-132, CA-133, CA-136, CA-137, CA-140, CA-142, CA-144, CA-145, CA-147, Oregon-R, NC-001, NC-002, NC-003, NC-004, NC-005, NC-006, NC-008, NC-010, NC-011, NC-012, NC-014, NC-015, NC-017, NC-021, NC-022, NC-023, NC-025, NC-026, NC-027, NC-028, NC-029, NC-030, NC-032, NC-033, NC-034, NC-036, NC-040, NC-041, NC-042, NC-043, NC-044, NC-046, NC-047, NC-048, NC-049, NC-051, NC-052, NC-053, NC-054, NC-057, NC-058, NC-059, NC-060, NC-062, NC-064, NC-066, NC-067, NC-068, NC-069, NC-071, NC-072, NC-073, NC-074, NC-075, NC-077, NC-079, NC-080, NC-081, NC-084, NC-086, NC-087, NC-089, NC-091, NC-092, NC-094, NC-095, NC-096, NC-097, NC-098, NC-100, NC-101, NC-103, NC-104, NC-105, NC-107, NC-108, NC-110, NC-112, NC-113, NC-114, NC-115, NC-116, NC-118, NC-119, NC-121, NC-123, NC-124, NC-126, NC-127, NC-128, NC-129, NC-131, NC-134, NC-135, NC-136, NC-137, NC-138, NC-139, NC-141, NC-142, NC-144, NC-146, NC-147, NC-149 and NC-148
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins which inhibit adenylate cyclase.
Reference sequence:
MLKTVTTAMAAGDDDVPASILEIELPAILLNESLFIELNGNLTQLVDTTSNLSQIVWNRSINGNGNSNTFDLVDDEQERAAVEFWLLVKMIAMAVVLGLMILVTIIGNVFVIAAIILERNLQNVANYLVASLAVADLFVACLVMPLGAVYEISNGWILGPELCDIWTSCDVLCCTASILHLVAIAADRYWTVTNIDYNNLRTPRRVFLMIFCVWFAALIVSLAPQFGWKDPDYMKRIEEQHCMVSQDVGYQIFATCCTFYVPLLVILFLYWKIYIIARKRIQRRAQKSFNVTLTETDCDSAVRELKKERSKRRAERKRLEAGERTPVDGDGTGGQLQRRTRKRMRICFGRNTNTANVVAGSEGAVARSMAAIAVDFASLAITREETEFSTSNYDNKSHAGTELTTVSSDADDYRTSNANEIITLSQQVAHATQHHLIASHLNAITPLAQSIAMGGVGCLTTTTPSEKALSGAGTVAGAVAGGSGSGSGEEGAGTEGKNAGVGLGGVLASIANPHQKLAKRRQLLEAKRERKAAQTLAIITGAFVICWLPFFVMALTMSLCKECEIHTAVASLFLWLGYFNSTLNPVIYTIFNPEFRRAFKRILFGRKAAARARSAKI
UniProt ID: P28286
Variant: E -> K at position 76-76
Variant annotation: in strain: CA-027
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins which inhibit adenylate cyclase.
Reference sequence:
MLKTVTTAMAAGDDDVPASILEIELPAILLNESLFIELNGNLTQLVDTTSNLSQIVWNRSINGNGNSNTFDLVDDEQERAAVEFWLLVKMIAMAVVLGLMILVTIIGNVFVIAAIILERNLQNVANYLVASLAVADLFVACLVMPLGAVYEISNGWILGPELCDIWTSCDVLCCTASILHLVAIAADRYWTVTNIDYNNLRTPRRVFLMIFCVWFAALIVSLAPQFGWKDPDYMKRIEEQHCMVSQDVGYQIFATCCTFYVPLLVILFLYWKIYIIARKRIQRRAQKSFNVTLTETDCDSAVRELKKERSKRRAERKRLEAGERTPVDGDGTGGQLQRRTRKRMRICFGRNTNTANVVAGSEGAVARSMAAIAVDFASLAITREETEFSTSNYDNKSHAGTELTTVSSDADDYRTSNANEIITLSQQVAHATQHHLIASHLNAITPLAQSIAMGGVGCLTTTTPSEKALSGAGTVAGAVAGGSGSGSGEEGAGTEGKNAGVGLGGVLASIANPHQKLAKRRQLLEAKRERKAAQTLAIITGAFVICWLPFFVMALTMSLCKECEIHTAVASLFLWLGYFNSTLNPVIYTIFNPEFRRAFKRILFGRKAAARARSAKI
UniProt ID: P28286
Variant: R -> W at position 79-79
Variant annotation: in strain: NC-037, NC-038, NC-039 and NC-109
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins which inhibit adenylate cyclase.
Reference sequence:
MLKTVTTAMAAGDDDVPASILEIELPAILLNESLFIELNGNLTQLVDTTSNLSQIVWNRSINGNGNSNTFDLVDDEQERAAVEFWLLVKMIAMAVVLGLMILVTIIGNVFVIAAIILERNLQNVANYLVASLAVADLFVACLVMPLGAVYEISNGWILGPELCDIWTSCDVLCCTASILHLVAIAADRYWTVTNIDYNNLRTPRRVFLMIFCVWFAALIVSLAPQFGWKDPDYMKRIEEQHCMVSQDVGYQIFATCCTFYVPLLVILFLYWKIYIIARKRIQRRAQKSFNVTLTETDCDSAVRELKKERSKRRAERKRLEAGERTPVDGDGTGGQLQRRTRKRMRICFGRNTNTANVVAGSEGAVARSMAAIAVDFASLAITREETEFSTSNYDNKSHAGTELTTVSSDADDYRTSNANEIITLSQQVAHATQHHLIASHLNAITPLAQSIAMGGVGCLTTTTPSEKALSGAGTVAGAVAGGSGSGSGEEGAGTEGKNAGVGLGGVLASIANPHQKLAKRRQLLEAKRERKAAQTLAIITGAFVICWLPFFVMALTMSLCKECEIHTAVASLFLWLGYFNSTLNPVIYTIFNPEFRRAFKRILFGRKAAARARSAKI
UniProt ID: P28286
Variant: M -> I at position 90-90
Variant annotation: in strain: NC-053
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins which inhibit adenylate cyclase.
Reference sequence:
MLKTVTTAMAAGDDDVPASILEIELPAILLNESLFIELNGNLTQLVDTTSNLSQIVWNRSINGNGNSNTFDLVDDEQERAAVEFWLLVKMIAMAVVLGLMILVTIIGNVFVIAAIILERNLQNVANYLVASLAVADLFVACLVMPLGAVYEISNGWILGPELCDIWTSCDVLCCTASILHLVAIAADRYWTVTNIDYNNLRTPRRVFLMIFCVWFAALIVSLAPQFGWKDPDYMKRIEEQHCMVSQDVGYQIFATCCTFYVPLLVILFLYWKIYIIARKRIQRRAQKSFNVTLTETDCDSAVRELKKERSKRRAERKRLEAGERTPVDGDGTGGQLQRRTRKRMRICFGRNTNTANVVAGSEGAVARSMAAIAVDFASLAITREETEFSTSNYDNKSHAGTELTTVSSDADDYRTSNANEIITLSQQVAHATQHHLIASHLNAITPLAQSIAMGGVGCLTTTTPSEKALSGAGTVAGAVAGGSGSGSGEEGAGTEGKNAGVGLGGVLASIANPHQKLAKRRQLLEAKRERKAAQTLAIITGAFVICWLPFFVMALTMSLCKECEIHTAVASLFLWLGYFNSTLNPVIYTIFNPEFRRAFKRILFGRKAAARARSAKI
UniProt ID: P28286
Variant: A -> E at position 301-301
Variant annotation: in strain: NC-026 and NC-027
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins which inhibit adenylate cyclase.
Reference sequence:
MLKTVTTAMAAGDDDVPASILEIELPAILLNESLFIELNGNLTQLVDTTSNLSQIVWNRSINGNGNSNTFDLVDDEQERAAVEFWLLVKMIAMAVVLGLMILVTIIGNVFVIAAIILERNLQNVANYLVASLAVADLFVACLVMPLGAVYEISNGWILGPELCDIWTSCDVLCCTASILHLVAIAADRYWTVTNIDYNNLRTPRRVFLMIFCVWFAALIVSLAPQFGWKDPDYMKRIEEQHCMVSQDVGYQIFATCCTFYVPLLVILFLYWKIYIIARKRIQRRAQKSFNVTLTETDCDSAVRELKKERSKRRAERKRLEAGERTPVDGDGTGGQLQRRTRKRMRICFGRNTNTANVVAGSEGAVARSMAAIAVDFASLAITREETEFSTSNYDNKSHAGTELTTVSSDADDYRTSNANEIITLSQQVAHATQHHLIASHLNAITPLAQSIAMGGVGCLTTTTPSEKALSGAGTVAGAVAGGSGSGSGEEGAGTEGKNAGVGLGGVLASIANPHQKLAKRRQLLEAKRERKAAQTLAIITGAFVICWLPFFVMALTMSLCKECEIHTAVASLFLWLGYFNSTLNPVIYTIFNPEFRRAFKRILFGRKAAARARSAKI
UniProt ID: P28286
Variant: R -> H at position 309-309
Variant annotation: in strain: CA-017, CA-061, CA-062, CA-093, CA-132, CA-018, CA-027, CA-070, CA-075, CA-081, CA-086, CA-096, CA-100, CA-105, CA-126, CA-128, CA-130, CA-137, CA-142, CA-145, NC-024, NC-048, NC-071, NC-104, NC-005, NC-008, NC-018, NC-025, NC-028, NC-043, NC-046, NC-049, NC-054, NC-058, NC-070, NC-077, NC-095, NC-098, NC-101, NC-103, NC-114, NC-115, NC-119, NC-136 and NC-141
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins which inhibit adenylate cyclase.
Reference sequence:
MLKTVTTAMAAGDDDVPASILEIELPAILLNESLFIELNGNLTQLVDTTSNLSQIVWNRSINGNGNSNTFDLVDDEQERAAVEFWLLVKMIAMAVVLGLMILVTIIGNVFVIAAIILERNLQNVANYLVASLAVADLFVACLVMPLGAVYEISNGWILGPELCDIWTSCDVLCCTASILHLVAIAADRYWTVTNIDYNNLRTPRRVFLMIFCVWFAALIVSLAPQFGWKDPDYMKRIEEQHCMVSQDVGYQIFATCCTFYVPLLVILFLYWKIYIIARKRIQRRAQKSFNVTLTETDCDSAVRELKKERSKRRAERKRLEAGERTPVDGDGTGGQLQRRTRKRMRICFGRNTNTANVVAGSEGAVARSMAAIAVDFASLAITREETEFSTSNYDNKSHAGTELTTVSSDADDYRTSNANEIITLSQQVAHATQHHLIASHLNAITPLAQSIAMGGVGCLTTTTPSEKALSGAGTVAGAVAGGSGSGSGEEGAGTEGKNAGVGLGGVLASIANPHQKLAKRRQLLEAKRERKAAQTLAIITGAFVICWLPFFVMALTMSLCKECEIHTAVASLFLWLGYFNSTLNPVIYTIFNPEFRRAFKRILFGRKAAARARSAKI
UniProt ID: P28286
Variant: S -> G at position 310-310
Variant annotation: in strain: CA-003, CA-035, CA-062, CA-066, CA-081, CA-091, CA-126, CA-145, CA-010, CA-015, CA-017, CA-018, CA-023, CA-027, CA-030, CA-061, CA-064, CA-070, CA-072, CA-075, CA-086, CA-090, CA-093, CA-095, CA-096, CA-100, CA-105, CA-114, CA-128, CA-130, CA-132, CA-137, CA-142, NC-010, NC-022, NC-028, NC-036, NC-037, NC-054, NC-068, NC-092, NC-095, NC-108, NC-100, NC-111, NC-119, NC-125, NC-142, NC-001, NC-003, NC-005, NC-006, NC-008, NC-012, NC-014, NC-017, NC-018, NC-021, NC-023, NC-024, NC-025, NC-026, NC-027, NC-032, NC-038, NC-039, NC-043, NC-046, NC-048, NC-049, NC-053, NC-058, NC-059, NC-069, NC-070, NC-071, NC-073, NC-077, NC-084, NC-089, NC-094, NC-096, NC-097, NC-098, NC-101, NC-103, NC-104, NC-105, NC-107, NC-114, NC-115, NC-118, NC-121, NC-123, NC-124, NC-126, NC-127, NC-131, NC-136, NC-139, NC-141, NC-146 and NC-149
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins which inhibit adenylate cyclase.
Reference sequence:
MLKTVTTAMAAGDDDVPASILEIELPAILLNESLFIELNGNLTQLVDTTSNLSQIVWNRSINGNGNSNTFDLVDDEQERAAVEFWLLVKMIAMAVVLGLMILVTIIGNVFVIAAIILERNLQNVANYLVASLAVADLFVACLVMPLGAVYEISNGWILGPELCDIWTSCDVLCCTASILHLVAIAADRYWTVTNIDYNNLRTPRRVFLMIFCVWFAALIVSLAPQFGWKDPDYMKRIEEQHCMVSQDVGYQIFATCCTFYVPLLVILFLYWKIYIIARKRIQRRAQKSFNVTLTETDCDSAVRELKKERSKRRAERKRLEAGERTPVDGDGTGGQLQRRTRKRMRICFGRNTNTANVVAGSEGAVARSMAAIAVDFASLAITREETEFSTSNYDNKSHAGTELTTVSSDADDYRTSNANEIITLSQQVAHATQHHLIASHLNAITPLAQSIAMGGVGCLTTTTPSEKALSGAGTVAGAVAGGSGSGSGEEGAGTEGKNAGVGLGGVLASIANPHQKLAKRRQLLEAKRERKAAQTLAIITGAFVICWLPFFVMALTMSLCKECEIHTAVASLFLWLGYFNSTLNPVIYTIFNPEFRRAFKRILFGRKAAARARSAKI
UniProt ID: P28286
Variant: T -> I at position 460-460
Variant annotation: in strain: CA-040, CA-055 and CA-098
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins which inhibit adenylate cyclase.
Reference sequence:
MLKTVTTAMAAGDDDVPASILEIELPAILLNESLFIELNGNLTQLVDTTSNLSQIVWNRSINGNGNSNTFDLVDDEQERAAVEFWLLVKMIAMAVVLGLMILVTIIGNVFVIAAIILERNLQNVANYLVASLAVADLFVACLVMPLGAVYEISNGWILGPELCDIWTSCDVLCCTASILHLVAIAADRYWTVTNIDYNNLRTPRRVFLMIFCVWFAALIVSLAPQFGWKDPDYMKRIEEQHCMVSQDVGYQIFATCCTFYVPLLVILFLYWKIYIIARKRIQRRAQKSFNVTLTETDCDSAVRELKKERSKRRAERKRLEAGERTPVDGDGTGGQLQRRTRKRMRICFGRNTNTANVVAGSEGAVARSMAAIAVDFASLAITREETEFSTSNYDNKSHAGTELTTVSSDADDYRTSNANEIITLSQQVAHATQHHLIASHLNAITPLAQSIAMGGVGCLTTTTPSEKALSGAGTVAGAVAGGSGSGSGEEGAGTEGKNAGVGLGGVLASIANPHQKLAKRRQLLEAKRERKAAQTLAIITGAFVICWLPFFVMALTMSLCKECEIHTAVASLFLWLGYFNSTLNPVIYTIFNPEFRRAFKRILFGRKAAARARSAKI
UniProt ID: P28286
Variant: T -> S at position 463-463
Variant annotation: in strain: NC-003 and NC-142
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins which inhibit adenylate cyclase.
Reference sequence:
MLKTVTTAMAAGDDDVPASILEIELPAILLNESLFIELNGNLTQLVDTTSNLSQIVWNRSINGNGNSNTFDLVDDEQERAAVEFWLLVKMIAMAVVLGLMILVTIIGNVFVIAAIILERNLQNVANYLVASLAVADLFVACLVMPLGAVYEISNGWILGPELCDIWTSCDVLCCTASILHLVAIAADRYWTVTNIDYNNLRTPRRVFLMIFCVWFAALIVSLAPQFGWKDPDYMKRIEEQHCMVSQDVGYQIFATCCTFYVPLLVILFLYWKIYIIARKRIQRRAQKSFNVTLTETDCDSAVRELKKERSKRRAERKRLEAGERTPVDGDGTGGQLQRRTRKRMRICFGRNTNTANVVAGSEGAVARSMAAIAVDFASLAITREETEFSTSNYDNKSHAGTELTTVSSDADDYRTSNANEIITLSQQVAHATQHHLIASHLNAITPLAQSIAMGGVGCLTTTTPSEKALSGAGTVAGAVAGGSGSGSGEEGAGTEGKNAGVGLGGVLASIANPHQKLAKRRQLLEAKRERKAAQTLAIITGAFVICWLPFFVMALTMSLCKECEIHTAVASLFLWLGYFNSTLNPVIYTIFNPEFRRAFKRILFGRKAAARARSAKI
UniProt ID: P28286
Variant: A -> V at position 492-492
Variant annotation: in strain: CA-064, NC-015, NC-096, NC-108, NC-128, NC-135 and NC-137
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins which inhibit adenylate cyclase.
Reference sequence:
MLKTVTTAMAAGDDDVPASILEIELPAILLNESLFIELNGNLTQLVDTTSNLSQIVWNRSINGNGNSNTFDLVDDEQERAAVEFWLLVKMIAMAVVLGLMILVTIIGNVFVIAAIILERNLQNVANYLVASLAVADLFVACLVMPLGAVYEISNGWILGPELCDIWTSCDVLCCTASILHLVAIAADRYWTVTNIDYNNLRTPRRVFLMIFCVWFAALIVSLAPQFGWKDPDYMKRIEEQHCMVSQDVGYQIFATCCTFYVPLLVILFLYWKIYIIARKRIQRRAQKSFNVTLTETDCDSAVRELKKERSKRRAERKRLEAGERTPVDGDGTGGQLQRRTRKRMRICFGRNTNTANVVAGSEGAVARSMAAIAVDFASLAITREETEFSTSNYDNKSHAGTELTTVSSDADDYRTSNANEIITLSQQVAHATQHHLIASHLNAITPLAQSIAMGGVGCLTTTTPSEKALSGAGTVAGAVAGGSGSGSGEEGAGTEGKNAGVGLGGVLASIANPHQKLAKRRQLLEAKRERKAAQTLAIITGAFVICWLPFFVMALTMSLCKECEIHTAVASLFLWLGYFNSTLNPVIYTIFNPEFRRAFKRILFGRKAAARARSAKI
UniProt ID: P28319
Variant: IADSEEFGL -> LPIPKNSAW at position 19-27
Variant annotation: in strain: CLIB 410
Protein function: Component of the cell wall.
Reference sequence:
MKFSTALSVALFALAKMVIADSEEFGLVSIRSGSDLQYLSVYSDNGTLKLGSGSGSFEATITDDGKLKFDDDKYAVVNEDGSFKEGSESDAATGFSIKDGHLNYKSSSGFYAIKDGSSYIFSSKQSDDATGVAIRPTSKSGSVAADFSPSDSSSSSSASASSASASSSTKHSSSIESVETSTTVETSSASSPTASVISQITDGQIQAPNTVYEQTENAGAKAAVGMGAGALAVAAAYLL
UniProt ID: P28325
Variant: C -> R at position 46-46
Variant annotation: in 45% of the population; dbSNP:rs1799841
Protein function: Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B.
Reference sequence:
MMWPMHTPLLLLTALMVAVAGSASAQSRTLAGGIHATDLNDKSVQCALDFAISEYNKVINKDEYYSRPLQVMAAYQQIVGGVNYYFNVKFGRTTCTKSQPNLDNCPFNDQPKLKEEEFCSFQINEVPWEDKISILNYKCRKV
UniProt ID: P28328
Variant: E -> K at position 55-55
Variant annotation: in PBD5B; infantile Refsum disease; dbSNP:rs61752119
Protein function: Somewhat implicated in the biogenesis of peroxisomes.
Reference sequence:
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSVLNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQRGKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATSGKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL
UniProt ID: P28328
Variant: C -> R at position 184-184
Variant annotation: in dbSNP:rs10087163
Protein function: Somewhat implicated in the biogenesis of peroxisomes.
Reference sequence:
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSVLNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQRGKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATSGKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL
UniProt ID: P28328
Variant: C -> R at position 247-247
Variant annotation: in PBD5A
Protein function: Somewhat implicated in the biogenesis of peroxisomes.
Reference sequence:
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSVLNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQRGKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATSGKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL
UniProt ID: P28329
Variant: D -> E at position 47-47
Variant annotation: in dbSNP:rs3810948
Protein function: Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
Reference sequence:
MGLRTAKKRGLGGGGKWKREEGGGTRGRREVRPACFLQSGGRGDPGDVGGPAGNPGCSPHPRAATRPPPLPAHTPAHTPEWCGAASAEAAEPRRAGPHLCIPAPGLTKTPILEKVPRKMAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAVIFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIMPEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGANRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHVTQSSRKLIRADSVSELPAPRRLRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLLLLKDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCKETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKATRPSQGHQP
UniProt ID: P28329
Variant: A -> T at position 120-120
Variant annotation: in dbSNP:rs3810950
Protein function: Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
Reference sequence:
MGLRTAKKRGLGGGGKWKREEGGGTRGRREVRPACFLQSGGRGDPGDVGGPAGNPGCSPHPRAATRPPPLPAHTPAHTPEWCGAASAEAAEPRRAGPHLCIPAPGLTKTPILEKVPRKMAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAVIFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIMPEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGANRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHVTQSSRKLIRADSVSELPAPRRLRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLLLLKDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCKETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKATRPSQGHQP
UniProt ID: P28329
Variant: L -> P at position 210-210
Variant annotation: in CMS6; impaired activity; dbSNP:rs121912820
Protein function: Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
Reference sequence:
MGLRTAKKRGLGGGGKWKREEGGGTRGRREVRPACFLQSGGRGDPGDVGGPAGNPGCSPHPRAATRPPPLPAHTPAHTPEWCGAASAEAAEPRRAGPHLCIPAPGLTKTPILEKVPRKMAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAVIFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIMPEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGANRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHVTQSSRKLIRADSVSELPAPRRLRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLLLLKDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCKETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKATRPSQGHQP