sujigwak/NVAR huggingface dataset:
UniProt ID: F1CKJ1
Variant: E -> D at position 448-448
Variant annotation: in strain: Q903; susceptible
Protein function: Terpene synthase (TPS) involved in defensive oleoresin formation in conifers in response to insect attack (e.g. white pine weevil P.strobi) or other injury. Produces (+)-sabinene from geranyl diphosphate, but has no activity with geranylgeranyl diphosphate or farnesyl diphosphate.
Reference sequence:
MSVISIVPLASNSCLYKSLMSSTHELKALCRPIATLGMCRRGKSVMASMSTSLTTAVSDDGVQRRIGHHHSNLWDDNFIQSLSSPYGASSYAESAKKLIGEVKEIFNSLSMAAGGLMSPVDDLLQHLSMVDNVERLGIDRHFQTEIKVSLDYVYSYWSEKGIGSGRDIVCTDLNTTALGFRILRLHGYTVFPDVFEHFKDQMGRIACSANHTERQISSILNLFRASLIAFPGEKVMEEAEIFSATYLKEALQTIPVSSLSQEMQYVLDYRWHSNLPRLETRTYIDILGETTINQMQDVNIQKLLELAKLEFNIFHSIQQNELKCISRWWKESGSPELTFIRHRHIEFYTLASGIDMEPKHSAFRLSFVKMCHLITVLDDIYDTFGTMDELRLFTSAVKRWDRSEIECLPEYMKGVYIILYETVNEMAREARKSQGRDTLNYARLALEEYIGAYLKEAEWISMGYLPTFEEYFKNGKVSSGHRIATLQPILTLDIPFPHHILQEIDFPSKFNELACSILRLRGDTRCYQADRDRGEKASCISCYMKDNPGSTEEDALNHINGMIEDTIKQLNWELLRPDNNVPISSKKHSFDISRAFHHLYRYRDGYTVSSNETKNLVVRTVLEPLPM
UniProt ID: F1CKJ1
Variant: G -> V at position 463-463
Variant annotation: in strain: Q903; susceptible
Protein function: Terpene synthase (TPS) involved in defensive oleoresin formation in conifers in response to insect attack (e.g. white pine weevil P.strobi) or other injury. Produces (+)-sabinene from geranyl diphosphate, but has no activity with geranylgeranyl diphosphate or farnesyl diphosphate.
Reference sequence:
MSVISIVPLASNSCLYKSLMSSTHELKALCRPIATLGMCRRGKSVMASMSTSLTTAVSDDGVQRRIGHHHSNLWDDNFIQSLSSPYGASSYAESAKKLIGEVKEIFNSLSMAAGGLMSPVDDLLQHLSMVDNVERLGIDRHFQTEIKVSLDYVYSYWSEKGIGSGRDIVCTDLNTTALGFRILRLHGYTVFPDVFEHFKDQMGRIACSANHTERQISSILNLFRASLIAFPGEKVMEEAEIFSATYLKEALQTIPVSSLSQEMQYVLDYRWHSNLPRLETRTYIDILGETTINQMQDVNIQKLLELAKLEFNIFHSIQQNELKCISRWWKESGSPELTFIRHRHIEFYTLASGIDMEPKHSAFRLSFVKMCHLITVLDDIYDTFGTMDELRLFTSAVKRWDRSEIECLPEYMKGVYIILYETVNEMAREARKSQGRDTLNYARLALEEYIGAYLKEAEWISMGYLPTFEEYFKNGKVSSGHRIATLQPILTLDIPFPHHILQEIDFPSKFNELACSILRLRGDTRCYQADRDRGEKASCISCYMKDNPGSTEEDALNHINGMIEDTIKQLNWELLRPDNNVPISSKKHSFDISRAFHHLYRYRDGYTVSSNETKNLVVRTVLEPLPM
UniProt ID: F1PZV2
Variant: R -> C at position 51-51
Variant annotation: induces white cream or cream coat color, caused by dilution of pheomelanin
Protein function: Transporter that mediates the import of cysteine into melanosomes, thereby regulating skin/hair pigmentation. In melanosomes, cysteine import is required both for normal levels of cystine, the oxidized dimer of cysteine, and provide cysteine for the production of the cysteinyldopas used in pheomelanin synthesis, thereby regulating skin/hair pigmentation. Also catalyzes import of cysteine into lysosomes in non-pigmented cells.
Reference sequence:
MGPGPPAAGAAAPPRPLSLSARLSYAVGHFLNDLCASMWFTYLLLYLHSVRAYSSRGAGLLLLLGHVADGLCTPLVGYEADRAAGRCVRCGPRKAWHLVGTVCVLLSFPFIFSPCLGCGPATPEWAALLYYGPFIVIFQFGWAATQIAHLSLIPELATNDHEKVELTALRYAFTVVANITVYAAAWFLLHLQGSPNVEMARDASDQLGIQDVQVFQNLSLLVIGVGAVFSLLFHLGTREGRRPQVEEPDENRPLLAPTTARPLLLWRHWLREPAFYQVGLLYMSTRLIVNLSQTYIAMYLTYSLSLPKKFIATIPLVMYLSGFCSSFLMKPVNKCIGRNLTYFTGLLVILAFAAWVALADRLGMAVYAAAVLLGSGCATILVTSLAMTADLIGPHTHSGAFVYGAMSFSDKVANGLAVMAIQSLYPCSLEICCRACMGFYRWVMVAATGGVGVAATLCLCSLLIWPIRLRSWDPGAQP
UniProt ID: F4JUI3
Variant: G -> D at position 114-114
Variant annotation: in strain: cv. Ak-1
Protein function: Transcriptional regulator that specifically binds to GA-rich elements (GAGA-repeats) present in regulatory sequences of genes involved in developmental processes.
Reference sequence:
MESGGQYENGRYKPDYYKGTQSVNVMPKKEQHNALVMNKKIISILAERDAAVKERNEAVAATKEALASRDEALEQRDKALSERDNAIMETESALNALRYRENNLNYILSCAKRGGSQRFITEESHLPNPSPISTIPPEAANTRPTKRKKESKQGKKMGEDLNRPVASPGKKSRKDWDSNDVLVTFDEMTMPVPMCTCTGTARQCYKWGNGGWQSSCCTTTLSEYPLPQMPNKRHSRVGGRKMSGSVFSRLLSRLAGEGHELSSPVDLKNYWARHGTNRYITIK
UniProt ID: F4JUI3
Variant: M -> T at position 188-188
Variant annotation: in strain: cv. Ak-1; cv. Bay-0 and cv. Landsberg erecta
Protein function: Transcriptional regulator that specifically binds to GA-rich elements (GAGA-repeats) present in regulatory sequences of genes involved in developmental processes.
Reference sequence:
MESGGQYENGRYKPDYYKGTQSVNVMPKKEQHNALVMNKKIISILAERDAAVKERNEAVAATKEALASRDEALEQRDKALSERDNAIMETESALNALRYRENNLNYILSCAKRGGSQRFITEESHLPNPSPISTIPPEAANTRPTKRKKESKQGKKMGEDLNRPVASPGKKSRKDWDSNDVLVTFDEMTMPVPMCTCTGTARQCYKWGNGGWQSSCCTTTLSEYPLPQMPNKRHSRVGGRKMSGSVFSRLLSRLAGEGHELSSPVDLKNYWARHGTNRYITIK
UniProt ID: F4JUI3
Variant: T -> A at position 196-196
Variant annotation: in strain: cv. Bay-0
Protein function: Transcriptional regulator that specifically binds to GA-rich elements (GAGA-repeats) present in regulatory sequences of genes involved in developmental processes.
Reference sequence:
MESGGQYENGRYKPDYYKGTQSVNVMPKKEQHNALVMNKKIISILAERDAAVKERNEAVAATKEALASRDEALEQRDKALSERDNAIMETESALNALRYRENNLNYILSCAKRGGSQRFITEESHLPNPSPISTIPPEAANTRPTKRKKESKQGKKMGEDLNRPVASPGKKSRKDWDSNDVLVTFDEMTMPVPMCTCTGTARQCYKWGNGGWQSSCCTTTLSEYPLPQMPNKRHSRVGGRKMSGSVFSRLLSRLAGEGHELSSPVDLKNYWARHGTNRYITIK
UniProt ID: G3FNQ9
Variant: S -> N at position 51-51
Variant annotation: in strain: XA
Protein function: Hydrolyzes gelatin, casein, the chromogenic substrate azocoll and the cuticle of the nematode P.redivivus. Immobilizes P.redivivus.
Reference sequence:
MLTNGLISLLAIAGLATNAFAGPIRKVSNAGAAGAIADKYIVVLKKGLSDSAVSKHTNRISSFHSNVARDLTGARAHGVGRKFRFSSTGFNGYVGGFDKATLQEILNSPEVDYVEQDTVVTTYAEQTDSTWGLDRISHEDYSAPYTYEYDETAAGAGTTVYVIDTGIRISHDEFQTVNGSSRATWGFNSVDKTDSDGNGHGTHCAGTIAGKTYGVSKKAKVVAVKVLSAGGSGSTAGVVSGMNWVAENATPNFSVASMSLGGSKSTALNAAVDCIFNAGITIVVAAGNENQDAKNVSPASAPNAITVGAIDSSNKIASLSNWGTLIDVFAPGVGVLSSWATSDKETKTISGTSMACPHVAGLAAYYISASEGGADPATITDKITSSRRQWSGHREHPWLPKQDRLQRICLSTHSPKTNHQVTIVAS
UniProt ID: G3FNQ9
Variant: T -> A at position 266-266
Variant annotation: in strain: XA
Protein function: Hydrolyzes gelatin, casein, the chromogenic substrate azocoll and the cuticle of the nematode P.redivivus. Immobilizes P.redivivus.
Reference sequence:
MLTNGLISLLAIAGLATNAFAGPIRKVSNAGAAGAIADKYIVVLKKGLSDSAVSKHTNRISSFHSNVARDLTGARAHGVGRKFRFSSTGFNGYVGGFDKATLQEILNSPEVDYVEQDTVVTTYAEQTDSTWGLDRISHEDYSAPYTYEYDETAAGAGTTVYVIDTGIRISHDEFQTVNGSSRATWGFNSVDKTDSDGNGHGTHCAGTIAGKTYGVSKKAKVVAVKVLSAGGSGSTAGVVSGMNWVAENATPNFSVASMSLGGSKSTALNAAVDCIFNAGITIVVAAGNENQDAKNVSPASAPNAITVGAIDSSNKIASLSNWGTLIDVFAPGVGVLSSWATSDKETKTISGTSMACPHVAGLAAYYISASEGGADPATITDKITSSRRQWSGHREHPWLPKQDRLQRICLSTHSPKTNHQVTIVAS
UniProt ID: G3FNQ9
Variant: A -> S at position 270-270
Variant annotation: in strain: XA
Protein function: Hydrolyzes gelatin, casein, the chromogenic substrate azocoll and the cuticle of the nematode P.redivivus. Immobilizes P.redivivus.
Reference sequence:
MLTNGLISLLAIAGLATNAFAGPIRKVSNAGAAGAIADKYIVVLKKGLSDSAVSKHTNRISSFHSNVARDLTGARAHGVGRKFRFSSTGFNGYVGGFDKATLQEILNSPEVDYVEQDTVVTTYAEQTDSTWGLDRISHEDYSAPYTYEYDETAAGAGTTVYVIDTGIRISHDEFQTVNGSSRATWGFNSVDKTDSDGNGHGTHCAGTIAGKTYGVSKKAKVVAVKVLSAGGSGSTAGVVSGMNWVAENATPNFSVASMSLGGSKSTALNAAVDCIFNAGITIVVAAGNENQDAKNVSPASAPNAITVGAIDSSNKIASLSNWGTLIDVFAPGVGVLSSWATSDKETKTISGTSMACPHVAGLAAYYISASEGGADPATITDKITSSRRQWSGHREHPWLPKQDRLQRICLSTHSPKTNHQVTIVAS
UniProt ID: G3FNQ9
Variant: C -> S at position 274-274
Variant annotation: in strain: XA
Protein function: Hydrolyzes gelatin, casein, the chromogenic substrate azocoll and the cuticle of the nematode P.redivivus. Immobilizes P.redivivus.
Reference sequence:
MLTNGLISLLAIAGLATNAFAGPIRKVSNAGAAGAIADKYIVVLKKGLSDSAVSKHTNRISSFHSNVARDLTGARAHGVGRKFRFSSTGFNGYVGGFDKATLQEILNSPEVDYVEQDTVVTTYAEQTDSTWGLDRISHEDYSAPYTYEYDETAAGAGTTVYVIDTGIRISHDEFQTVNGSSRATWGFNSVDKTDSDGNGHGTHCAGTIAGKTYGVSKKAKVVAVKVLSAGGSGSTAGVVSGMNWVAENATPNFSVASMSLGGSKSTALNAAVDCIFNAGITIVVAAGNENQDAKNVSPASAPNAITVGAIDSSNKIASLSNWGTLIDVFAPGVGVLSSWATSDKETKTISGTSMACPHVAGLAAYYISASEGGADPATITDKITSSRRQWSGHREHPWLPKQDRLQRICLSTHSPKTNHQVTIVAS
UniProt ID: G3FNQ9
Variant: L -> F at position 319-319
Variant annotation: in strain: XA
Protein function: Hydrolyzes gelatin, casein, the chromogenic substrate azocoll and the cuticle of the nematode P.redivivus. Immobilizes P.redivivus.
Reference sequence:
MLTNGLISLLAIAGLATNAFAGPIRKVSNAGAAGAIADKYIVVLKKGLSDSAVSKHTNRISSFHSNVARDLTGARAHGVGRKFRFSSTGFNGYVGGFDKATLQEILNSPEVDYVEQDTVVTTYAEQTDSTWGLDRISHEDYSAPYTYEYDETAAGAGTTVYVIDTGIRISHDEFQTVNGSSRATWGFNSVDKTDSDGNGHGTHCAGTIAGKTYGVSKKAKVVAVKVLSAGGSGSTAGVVSGMNWVAENATPNFSVASMSLGGSKSTALNAAVDCIFNAGITIVVAAGNENQDAKNVSPASAPNAITVGAIDSSNKIASLSNWGTLIDVFAPGVGVLSSWATSDKETKTISGTSMACPHVAGLAAYYISASEGGADPATITDKITSSRRQWSGHREHPWLPKQDRLQRICLSTHSPKTNHQVTIVAS
UniProt ID: G3FNQ9
Variant: T -> I at position 378-378
Variant annotation: in strain: XA
Protein function: Hydrolyzes gelatin, casein, the chromogenic substrate azocoll and the cuticle of the nematode P.redivivus. Immobilizes P.redivivus.
Reference sequence:
MLTNGLISLLAIAGLATNAFAGPIRKVSNAGAAGAIADKYIVVLKKGLSDSAVSKHTNRISSFHSNVARDLTGARAHGVGRKFRFSSTGFNGYVGGFDKATLQEILNSPEVDYVEQDTVVTTYAEQTDSTWGLDRISHEDYSAPYTYEYDETAAGAGTTVYVIDTGIRISHDEFQTVNGSSRATWGFNSVDKTDSDGNGHGTHCAGTIAGKTYGVSKKAKVVAVKVLSAGGSGSTAGVVSGMNWVAENATPNFSVASMSLGGSKSTALNAAVDCIFNAGITIVVAAGNENQDAKNVSPASAPNAITVGAIDSSNKIASLSNWGTLIDVFAPGVGVLSSWATSDKETKTISGTSMACPHVAGLAAYYISASEGGADPATITDKITSSRRQWSGHREHPWLPKQDRLQRICLSTHSPKTNHQVTIVAS
UniProt ID: G3FNQ9
Variant: P -> S at position 400-400
Variant annotation: in strain: XA
Protein function: Hydrolyzes gelatin, casein, the chromogenic substrate azocoll and the cuticle of the nematode P.redivivus. Immobilizes P.redivivus.
Reference sequence:
MLTNGLISLLAIAGLATNAFAGPIRKVSNAGAAGAIADKYIVVLKKGLSDSAVSKHTNRISSFHSNVARDLTGARAHGVGRKFRFSSTGFNGYVGGFDKATLQEILNSPEVDYVEQDTVVTTYAEQTDSTWGLDRISHEDYSAPYTYEYDETAAGAGTTVYVIDTGIRISHDEFQTVNGSSRATWGFNSVDKTDSDGNGHGTHCAGTIAGKTYGVSKKAKVVAVKVLSAGGSGSTAGVVSGMNWVAENATPNFSVASMSLGGSKSTALNAAVDCIFNAGITIVVAAGNENQDAKNVSPASAPNAITVGAIDSSNKIASLSNWGTLIDVFAPGVGVLSSWATSDKETKTISGTSMACPHVAGLAAYYISASEGGADPATITDKITSSRRQWSGHREHPWLPKQDRLQRICLSTHSPKTNHQVTIVAS
UniProt ID: G3FNQ9
Variant: S -> N at position 411-411
Variant annotation: in strain: XA
Protein function: Hydrolyzes gelatin, casein, the chromogenic substrate azocoll and the cuticle of the nematode P.redivivus. Immobilizes P.redivivus.
Reference sequence:
MLTNGLISLLAIAGLATNAFAGPIRKVSNAGAAGAIADKYIVVLKKGLSDSAVSKHTNRISSFHSNVARDLTGARAHGVGRKFRFSSTGFNGYVGGFDKATLQEILNSPEVDYVEQDTVVTTYAEQTDSTWGLDRISHEDYSAPYTYEYDETAAGAGTTVYVIDTGIRISHDEFQTVNGSSRATWGFNSVDKTDSDGNGHGTHCAGTIAGKTYGVSKKAKVVAVKVLSAGGSGSTAGVVSGMNWVAENATPNFSVASMSLGGSKSTALNAAVDCIFNAGITIVVAAGNENQDAKNVSPASAPNAITVGAIDSSNKIASLSNWGTLIDVFAPGVGVLSSWATSDKETKTISGTSMACPHVAGLAAYYISASEGGADPATITDKITSSRRQWSGHREHPWLPKQDRLQRICLSTHSPKTNHQVTIVAS
UniProt ID: G3FNQ9
Variant: T -> A at position 422-422
Variant annotation: in strain: XA
Protein function: Hydrolyzes gelatin, casein, the chromogenic substrate azocoll and the cuticle of the nematode P.redivivus. Immobilizes P.redivivus.
Reference sequence:
MLTNGLISLLAIAGLATNAFAGPIRKVSNAGAAGAIADKYIVVLKKGLSDSAVSKHTNRISSFHSNVARDLTGARAHGVGRKFRFSSTGFNGYVGGFDKATLQEILNSPEVDYVEQDTVVTTYAEQTDSTWGLDRISHEDYSAPYTYEYDETAAGAGTTVYVIDTGIRISHDEFQTVNGSSRATWGFNSVDKTDSDGNGHGTHCAGTIAGKTYGVSKKAKVVAVKVLSAGGSGSTAGVVSGMNWVAENATPNFSVASMSLGGSKSTALNAAVDCIFNAGITIVVAAGNENQDAKNVSPASAPNAITVGAIDSSNKIASLSNWGTLIDVFAPGVGVLSSWATSDKETKTISGTSMACPHVAGLAAYYISASEGGADPATITDKITSSRRQWSGHREHPWLPKQDRLQRICLSTHSPKTNHQVTIVAS
UniProt ID: I0CME7
Variant: D -> E at position 78-78
Protein function: Hyaluronidase catalyzes the hydrolysis of hyaluronic acid (HA), an anionic, nonsulfated glycosaminoglycan distributed widely throughout connective, epithelial, and neural tissues. In venom, they are known to enhance diffusion of the venom by degrading the extracellular matrix.
Reference sequence:
MRAVVVVTGLVVVVVATALSLPNHDVKSATSSRSSSDYQGSSGDDCDEGLPPPDQPFRVVWNHPDNCERIKLHLPLDDYGIIFNKLRVFLGEEIQTLYDTGPWPYISETGKFINGGLPQSFNHPDNDGETQRILKKHRPENFTGLGVLDFETWRAIYSTNFGPMTIYQNESVKLVKEQHPDYDQKKLTKVAEKEWQQAAKDIMSNKLKIAQEVMPRGHWGYYLYPRTWDNKRDTKFRNDKINWLWRQSTGLYPSIYIYDFSKTESAITKFVSDTVGEAVRVQKEFSPPNTPIYPYVMFQTMDNIFHYEDHLKISLGLSAKMGAAGVVLWGTSKHYKESTRQWQCQQLQEHIRTVLGPLVKNVTQMMTDCSRAICEGHGRCVHNSHDVILGETESQRLSDLCSTRQSRFRDYHCRCYSAWEGACCQTLRPSRCQKREQRNVHGGGDLID
UniProt ID: I2G9B4
Variant: N -> S at position 67-67
Protein function: Serine protease inhibitor that inhibits trypsin. Exhibits an anti-tumor effect and displays integrin inhibitory activity without being cytotoxic. Is able to dose-dependently inhibit the adhesion, migration and invasion of human glioblastoma U87 cells. Also impairs the function of alphavbeta3 and to a lesser extent, the activity of alphavbeta6, alphavbeta5, alpha1beta1 and alpha5beta1 integrins.
Reference sequence:
MSSGGLLLLLGLLTLWAELTPVSSQDRPKFCYLPADPAECNAYMPRFYYDSASNKCKEFIYGGCRGNANNFKNRAECRHTCVASRKGIQPRIASN
UniProt ID: I6Y8F7
Variant: S -> R at position 63-63
Variant annotation: in CFZ-R1; leads to increased expression of mmpL5 and partial resistance to both clofazimine and bedaquiline
Protein function: Controls the expression level of the Mmps2-MmpL2, MmpS4-MmpL4, and MmpS5-MmpL5 transport systems. Also controls its own expression. Acts by binding directly to the promoter regions.
Reference sequence:
MSVNDGVDQMGAEPDIMEFVEQMGGYFESRSLTRLAGRLLGWLLVCDPERQSSEELATALAASSGGISTNARMLIQFGFIERLAVAGDRRTYFRLRPNAFAAGERERIRAMAELQDLADVGLRALGDAPPQRSRRLREMRDLLAYMENVVSDALGRYSQRTGEDD
UniProt ID: M0R2J8
Variant: E -> G at position 7-7
Variant annotation: in dbSNP:rs11031357
Protein function: Microtubule-binding protein which plays an important role in mediating dynein-dependent transport of RAB8A-positive vesicles to the midbody during cytokinesis .
Reference sequence:
MAKTGAEDHREALSQSSLSLLTEAMEVLQQSSPEGTLDGNTVNPIYKYILNDLPREFMSSQAKAVIKTTDDYLQSQFGPNRLVHSAAVSEGSGLQDCSTHQTASDHSHDEISDLDSYKSNSKNNSCSISASKRNRPVSAPVGQLRVAEFSSLKFQSARNWQKLSQRHKLQPRVIKVTAYKNGSRTVFARVTVPTITLLLEECTEKLNLNMAARRVFLADGKEALEPEDIPHEADVYVSTGEPFLNPFKKIKDHLLLIKKVTWTMNGLMLPTDIKRRKTKPVLSIRMKKLTERTSVRILFFKNGMGQDGHEITVGKETMKKVLDTCTIRMNLNLPARYFYDLYGRKIEDISKVPLLEKCLQNSITPLRGLLWVSKGEGFSPSGAKMYIQGVLLALYQRLKSAKKYYKQLNLVMNEQKEKITEKVILSMTAKEHHKEQEEVSRLIDELQTAIKSNIGHLCKLGPQLQAEQEQFSSYVYQHIKSLPANTLVPGGLQLKVFENGKNTGEISVGISKKDLGSDSPIQTDHMMERLLLKIHQRLQGSSINPPGLNYSSMRLFDENGQEIKNPLSLKNEQKIWVSYGRAYRSPLNLALGLTFDRVSAFARGDIMVAYKTFLDPNAVLLPGCGNWEVCEGFPINFNCTSQQIPDQFEKVDLENHFLQNKVDPNIVLHASVSIGKWSFSGSEASSRSQIAPSILWPVASVWLITKTGMILSRAITQGCLAIGHPIRVKAAEGTSLEGYKLILQKRHSGDDSQKWVFGTDGCIYSKAYPQFVLTYLEELNAQVDVTQTEYHIHHGAWTTAHQEHGRNLAEEVLQESASNLGLKQLPEPSDTHLMPEGSLEETGELTVALVRKLEEKHPKASAQRWAIKHEGTSKPGQWKHSRVENPLWNKLTYMWPVLPSGQLNEEFDWPIQGLLVPSSPPMKKPICKTTEPYAPVRLRVLQNGEKNKNRSVTILGPDISPGRKTQCTEILNLPSAARRLYNEKGKEIFALKDLQRDELVYVSCGELWINPDLSIAQQKKQIFLRNLESDIAKIQIFCSTHKIEALVLEVQSDIVSGSKLAVHKPVAIFGEEKQVTEPEEKQMQEDPLTTENASSEILDSHVRAHLRMKACHTLPRYAWQETSHDFDEDDSLPKKTEKGLFENVEPQKKHSCSPKHSKLHKHCHQQFEYRDGQIISHAAPQLVLGVQGPNLRSGMEVVLVEKKSDGSHQRWIHQEDSRTFHLVSNPDLVLAVSMTKTRNEVCGYPVIVQKYKPYNNGAANQKWHYMKNIKALVAFHSTALDKEITSANYAGVCTSSVIKEENIDQPGYCYLSPDGKRKTMLCLACGQSMRTEKGLKQLLPGVPFLCISGTKTQKPFLQGPFKVISVAEVDLSCDKAEKTLSYYQARLLSLRMKTCTQAASHSGMAATHQKAVKIIAYKNGDGYRNGKLIVAGTFPMLLTECTEQLGLARAASKVYTKDGTPIFTLRDLVLWALDESFLQRDSEKQKQDAAPVGKEQIIVEKNPRMKVKNRLFAKSVTSDSLDGIDKSLLTLILRNPIAIWVSCGEPFLPPNALQKAEKLEKQNWLKKDRILADLDTMRHKMRQLKGRRVAACQPATMVPTKSPVQPVVVEGGWTEQTQQEIKLMELIRHTEAHLSEIQEMESKINFPIATKRIAVKPSNLYKQPNTKRVWIYLNGGRPEDGTYAWGKTISELLQDCSSRLKMTHPARALYTPSGEPIQSWDDIERDMVICVSMGHGFKTPKELKQLMEIRANYARIRRQQGPQATDIVVSPSTKLLSLAHLHN
UniProt ID: M0R2J8
Variant: V -> M at position 83-83
Variant annotation: in dbSNP:rs2761591
Protein function: Microtubule-binding protein which plays an important role in mediating dynein-dependent transport of RAB8A-positive vesicles to the midbody during cytokinesis .
Reference sequence:
MAKTGAEDHREALSQSSLSLLTEAMEVLQQSSPEGTLDGNTVNPIYKYILNDLPREFMSSQAKAVIKTTDDYLQSQFGPNRLVHSAAVSEGSGLQDCSTHQTASDHSHDEISDLDSYKSNSKNNSCSISASKRNRPVSAPVGQLRVAEFSSLKFQSARNWQKLSQRHKLQPRVIKVTAYKNGSRTVFARVTVPTITLLLEECTEKLNLNMAARRVFLADGKEALEPEDIPHEADVYVSTGEPFLNPFKKIKDHLLLIKKVTWTMNGLMLPTDIKRRKTKPVLSIRMKKLTERTSVRILFFKNGMGQDGHEITVGKETMKKVLDTCTIRMNLNLPARYFYDLYGRKIEDISKVPLLEKCLQNSITPLRGLLWVSKGEGFSPSGAKMYIQGVLLALYQRLKSAKKYYKQLNLVMNEQKEKITEKVILSMTAKEHHKEQEEVSRLIDELQTAIKSNIGHLCKLGPQLQAEQEQFSSYVYQHIKSLPANTLVPGGLQLKVFENGKNTGEISVGISKKDLGSDSPIQTDHMMERLLLKIHQRLQGSSINPPGLNYSSMRLFDENGQEIKNPLSLKNEQKIWVSYGRAYRSPLNLALGLTFDRVSAFARGDIMVAYKTFLDPNAVLLPGCGNWEVCEGFPINFNCTSQQIPDQFEKVDLENHFLQNKVDPNIVLHASVSIGKWSFSGSEASSRSQIAPSILWPVASVWLITKTGMILSRAITQGCLAIGHPIRVKAAEGTSLEGYKLILQKRHSGDDSQKWVFGTDGCIYSKAYPQFVLTYLEELNAQVDVTQTEYHIHHGAWTTAHQEHGRNLAEEVLQESASNLGLKQLPEPSDTHLMPEGSLEETGELTVALVRKLEEKHPKASAQRWAIKHEGTSKPGQWKHSRVENPLWNKLTYMWPVLPSGQLNEEFDWPIQGLLVPSSPPMKKPICKTTEPYAPVRLRVLQNGEKNKNRSVTILGPDISPGRKTQCTEILNLPSAARRLYNEKGKEIFALKDLQRDELVYVSCGELWINPDLSIAQQKKQIFLRNLESDIAKIQIFCSTHKIEALVLEVQSDIVSGSKLAVHKPVAIFGEEKQVTEPEEKQMQEDPLTTENASSEILDSHVRAHLRMKACHTLPRYAWQETSHDFDEDDSLPKKTEKGLFENVEPQKKHSCSPKHSKLHKHCHQQFEYRDGQIISHAAPQLVLGVQGPNLRSGMEVVLVEKKSDGSHQRWIHQEDSRTFHLVSNPDLVLAVSMTKTRNEVCGYPVIVQKYKPYNNGAANQKWHYMKNIKALVAFHSTALDKEITSANYAGVCTSSVIKEENIDQPGYCYLSPDGKRKTMLCLACGQSMRTEKGLKQLLPGVPFLCISGTKTQKPFLQGPFKVISVAEVDLSCDKAEKTLSYYQARLLSLRMKTCTQAASHSGMAATHQKAVKIIAYKNGDGYRNGKLIVAGTFPMLLTECTEQLGLARAASKVYTKDGTPIFTLRDLVLWALDESFLQRDSEKQKQDAAPVGKEQIIVEKNPRMKVKNRLFAKSVTSDSLDGIDKSLLTLILRNPIAIWVSCGEPFLPPNALQKAEKLEKQNWLKKDRILADLDTMRHKMRQLKGRRVAACQPATMVPTKSPVQPVVVEGGWTEQTQQEIKLMELIRHTEAHLSEIQEMESKINFPIATKRIAVKPSNLYKQPNTKRVWIYLNGGRPEDGTYAWGKTISELLQDCSSRLKMTHPARALYTPSGEPIQSWDDIERDMVICVSMGHGFKTPKELKQLMEIRANYARIRRQQGPQATDIVVSPSTKLLSLAHLHN
UniProt ID: M3WHG5
Variant: LRRKEEERLGGLKDRIKKESSQRELLSDAAHLNETHCARCLQPYRLLVAPKRQCLDCHLFTCQDCSHAHPEEEGWLCDPCHLARVVKMGSLEWYYGHLRARFKRFGSAKVIRSLCGRLQGGGGPEPSPGEGSGDSEQTEEDGELDTVAQAQPLGSKKKRLSIHGLDFDADSDGSTQSSGHPPYLSPVPMATDSLQTLTGEPRAKDTSQEAVVLEEADVGAPGCHPHPEEQTDSLSAARQDTLTEPRFPRQSCTTALGLAVTPGPGVISSSERLSSRYPADEGTSDDEDTGADGVASQSLTWRDCAPAESQHLTGHQPTDADREEETLKRKLEEMTSHISDQGASSEEEGSKEEEAGLNRKTSIEDLPGAAPEVLVASGQTSRQETSPRGPQELMQPGRTTDQELLELEDRVAVTASEVQQVESEVSNIKSKIAALQAAGLSVRPSGKPQRRSNLPIFLPRLVGRLGQTPKDPNAEPSDEVKVMTAPYLLRRKFSNPPKSQDKAGDSFDRQSAYRGSLTQRNPNSRKGVANHSFAKPVMTQRP -> REGKKRKGWGD at position 28-569
Variant annotation: associated with the dilute coat color phenotype
Protein function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Reference sequence:
MGKKLDLSKLTDDEAKHIWEVVQRDFDLRRKEEERLGGLKDRIKKESSQRELLSDAAHLNETHCARCLQPYRLLVAPKRQCLDCHLFTCQDCSHAHPEEEGWLCDPCHLARVVKMGSLEWYYGHLRARFKRFGSAKVIRSLCGRLQGGGGPEPSPGEGSGDSEQTEEDGELDTVAQAQPLGSKKKRLSIHGLDFDADSDGSTQSSGHPPYLSPVPMATDSLQTLTGEPRAKDTSQEAVVLEEADVGAPGCHPHPEEQTDSLSAARQDTLTEPRFPRQSCTTALGLAVTPGPGVISSSERLSSRYPADEGTSDDEDTGADGVASQSLTWRDCAPAESQHLTGHQPTDADREEETLKRKLEEMTSHISDQGASSEEEGSKEEEAGLNRKTSIEDLPGAAPEVLVASGQTSRQETSPRGPQELMQPGRTTDQELLELEDRVAVTASEVQQVESEVSNIKSKIAALQAAGLSVRPSGKPQRRSNLPIFLPRLVGRLGQTPKDPNAEPSDEVKVMTAPYLLRRKFSNPPKSQDKAGDSFDRQSAYRGSLTQRNPNSRKGVANHSFAKPVMTQRP
UniProt ID: M3WHG5
Variant: S -> G at position 205-205
Protein function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Reference sequence:
MGKKLDLSKLTDDEAKHIWEVVQRDFDLRRKEEERLGGLKDRIKKESSQRELLSDAAHLNETHCARCLQPYRLLVAPKRQCLDCHLFTCQDCSHAHPEEEGWLCDPCHLARVVKMGSLEWYYGHLRARFKRFGSAKVIRSLCGRLQGGGGPEPSPGEGSGDSEQTEEDGELDTVAQAQPLGSKKKRLSIHGLDFDADSDGSTQSSGHPPYLSPVPMATDSLQTLTGEPRAKDTSQEAVVLEEADVGAPGCHPHPEEQTDSLSAARQDTLTEPRFPRQSCTTALGLAVTPGPGVISSSERLSSRYPADEGTSDDEDTGADGVASQSLTWRDCAPAESQHLTGHQPTDADREEETLKRKLEEMTSHISDQGASSEEEGSKEEEAGLNRKTSIEDLPGAAPEVLVASGQTSRQETSPRGPQELMQPGRTTDQELLELEDRVAVTASEVQQVESEVSNIKSKIAALQAAGLSVRPSGKPQRRSNLPIFLPRLVGRLGQTPKDPNAEPSDEVKVMTAPYLLRRKFSNPPKSQDKAGDSFDRQSAYRGSLTQRNPNSRKGVANHSFAKPVMTQRP
UniProt ID: M3WHG5
Variant: T -> A at position 223-223
Protein function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Reference sequence:
MGKKLDLSKLTDDEAKHIWEVVQRDFDLRRKEEERLGGLKDRIKKESSQRELLSDAAHLNETHCARCLQPYRLLVAPKRQCLDCHLFTCQDCSHAHPEEEGWLCDPCHLARVVKMGSLEWYYGHLRARFKRFGSAKVIRSLCGRLQGGGGPEPSPGEGSGDSEQTEEDGELDTVAQAQPLGSKKKRLSIHGLDFDADSDGSTQSSGHPPYLSPVPMATDSLQTLTGEPRAKDTSQEAVVLEEADVGAPGCHPHPEEQTDSLSAARQDTLTEPRFPRQSCTTALGLAVTPGPGVISSSERLSSRYPADEGTSDDEDTGADGVASQSLTWRDCAPAESQHLTGHQPTDADREEETLKRKLEEMTSHISDQGASSEEEGSKEEEAGLNRKTSIEDLPGAAPEVLVASGQTSRQETSPRGPQELMQPGRTTDQELLELEDRVAVTASEVQQVESEVSNIKSKIAALQAAGLSVRPSGKPQRRSNLPIFLPRLVGRLGQTPKDPNAEPSDEVKVMTAPYLLRRKFSNPPKSQDKAGDSFDRQSAYRGSLTQRNPNSRKGVANHSFAKPVMTQRP
UniProt ID: M3WHG5
Variant: P -> S at position 228-228
Protein function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Reference sequence:
MGKKLDLSKLTDDEAKHIWEVVQRDFDLRRKEEERLGGLKDRIKKESSQRELLSDAAHLNETHCARCLQPYRLLVAPKRQCLDCHLFTCQDCSHAHPEEEGWLCDPCHLARVVKMGSLEWYYGHLRARFKRFGSAKVIRSLCGRLQGGGGPEPSPGEGSGDSEQTEEDGELDTVAQAQPLGSKKKRLSIHGLDFDADSDGSTQSSGHPPYLSPVPMATDSLQTLTGEPRAKDTSQEAVVLEEADVGAPGCHPHPEEQTDSLSAARQDTLTEPRFPRQSCTTALGLAVTPGPGVISSSERLSSRYPADEGTSDDEDTGADGVASQSLTWRDCAPAESQHLTGHQPTDADREEETLKRKLEEMTSHISDQGASSEEEGSKEEEAGLNRKTSIEDLPGAAPEVLVASGQTSRQETSPRGPQELMQPGRTTDQELLELEDRVAVTASEVQQVESEVSNIKSKIAALQAAGLSVRPSGKPQRRSNLPIFLPRLVGRLGQTPKDPNAEPSDEVKVMTAPYLLRRKFSNPPKSQDKAGDSFDRQSAYRGSLTQRNPNSRKGVANHSFAKPVMTQRP
UniProt ID: M3WHG5
Variant: C -> F at position 250-250
Protein function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Reference sequence:
MGKKLDLSKLTDDEAKHIWEVVQRDFDLRRKEEERLGGLKDRIKKESSQRELLSDAAHLNETHCARCLQPYRLLVAPKRQCLDCHLFTCQDCSHAHPEEEGWLCDPCHLARVVKMGSLEWYYGHLRARFKRFGSAKVIRSLCGRLQGGGGPEPSPGEGSGDSEQTEEDGELDTVAQAQPLGSKKKRLSIHGLDFDADSDGSTQSSGHPPYLSPVPMATDSLQTLTGEPRAKDTSQEAVVLEEADVGAPGCHPHPEEQTDSLSAARQDTLTEPRFPRQSCTTALGLAVTPGPGVISSSERLSSRYPADEGTSDDEDTGADGVASQSLTWRDCAPAESQHLTGHQPTDADREEETLKRKLEEMTSHISDQGASSEEEGSKEEEAGLNRKTSIEDLPGAAPEVLVASGQTSRQETSPRGPQELMQPGRTTDQELLELEDRVAVTASEVQQVESEVSNIKSKIAALQAAGLSVRPSGKPQRRSNLPIFLPRLVGRLGQTPKDPNAEPSDEVKVMTAPYLLRRKFSNPPKSQDKAGDSFDRQSAYRGSLTQRNPNSRKGVANHSFAKPVMTQRP
UniProt ID: M3WHG5
Variant: C -> L at position 250-250
Protein function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Reference sequence:
MGKKLDLSKLTDDEAKHIWEVVQRDFDLRRKEEERLGGLKDRIKKESSQRELLSDAAHLNETHCARCLQPYRLLVAPKRQCLDCHLFTCQDCSHAHPEEEGWLCDPCHLARVVKMGSLEWYYGHLRARFKRFGSAKVIRSLCGRLQGGGGPEPSPGEGSGDSEQTEEDGELDTVAQAQPLGSKKKRLSIHGLDFDADSDGSTQSSGHPPYLSPVPMATDSLQTLTGEPRAKDTSQEAVVLEEADVGAPGCHPHPEEQTDSLSAARQDTLTEPRFPRQSCTTALGLAVTPGPGVISSSERLSSRYPADEGTSDDEDTGADGVASQSLTWRDCAPAESQHLTGHQPTDADREEETLKRKLEEMTSHISDQGASSEEEGSKEEEAGLNRKTSIEDLPGAAPEVLVASGQTSRQETSPRGPQELMQPGRTTDQELLELEDRVAVTASEVQQVESEVSNIKSKIAALQAAGLSVRPSGKPQRRSNLPIFLPRLVGRLGQTPKDPNAEPSDEVKVMTAPYLLRRKFSNPPKSQDKAGDSFDRQSAYRGSLTQRNPNSRKGVANHSFAKPVMTQRP
UniProt ID: M3WHG5
Variant: C -> R at position 250-250
Protein function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Reference sequence:
MGKKLDLSKLTDDEAKHIWEVVQRDFDLRRKEEERLGGLKDRIKKESSQRELLSDAAHLNETHCARCLQPYRLLVAPKRQCLDCHLFTCQDCSHAHPEEEGWLCDPCHLARVVKMGSLEWYYGHLRARFKRFGSAKVIRSLCGRLQGGGGPEPSPGEGSGDSEQTEEDGELDTVAQAQPLGSKKKRLSIHGLDFDADSDGSTQSSGHPPYLSPVPMATDSLQTLTGEPRAKDTSQEAVVLEEADVGAPGCHPHPEEQTDSLSAARQDTLTEPRFPRQSCTTALGLAVTPGPGVISSSERLSSRYPADEGTSDDEDTGADGVASQSLTWRDCAPAESQHLTGHQPTDADREEETLKRKLEEMTSHISDQGASSEEEGSKEEEAGLNRKTSIEDLPGAAPEVLVASGQTSRQETSPRGPQELMQPGRTTDQELLELEDRVAVTASEVQQVESEVSNIKSKIAALQAAGLSVRPSGKPQRRSNLPIFLPRLVGRLGQTPKDPNAEPSDEVKVMTAPYLLRRKFSNPPKSQDKAGDSFDRQSAYRGSLTQRNPNSRKGVANHSFAKPVMTQRP
UniProt ID: M3WHG5
Variant: S -> A at position 404-404
Protein function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
Reference sequence:
MGKKLDLSKLTDDEAKHIWEVVQRDFDLRRKEEERLGGLKDRIKKESSQRELLSDAAHLNETHCARCLQPYRLLVAPKRQCLDCHLFTCQDCSHAHPEEEGWLCDPCHLARVVKMGSLEWYYGHLRARFKRFGSAKVIRSLCGRLQGGGGPEPSPGEGSGDSEQTEEDGELDTVAQAQPLGSKKKRLSIHGLDFDADSDGSTQSSGHPPYLSPVPMATDSLQTLTGEPRAKDTSQEAVVLEEADVGAPGCHPHPEEQTDSLSAARQDTLTEPRFPRQSCTTALGLAVTPGPGVISSSERLSSRYPADEGTSDDEDTGADGVASQSLTWRDCAPAESQHLTGHQPTDADREEETLKRKLEEMTSHISDQGASSEEEGSKEEEAGLNRKTSIEDLPGAAPEVLVASGQTSRQETSPRGPQELMQPGRTTDQELLELEDRVAVTASEVQQVESEVSNIKSKIAALQAAGLSVRPSGKPQRRSNLPIFLPRLVGRLGQTPKDPNAEPSDEVKVMTAPYLLRRKFSNPPKSQDKAGDSFDRQSAYRGSLTQRNPNSRKGVANHSFAKPVMTQRP