sujigwak/NVAR huggingface dataset:
UniProt ID: Q7RTS6
Variant: G -> W at position 465-465
Variant annotation: in dbSNP:rs6501741
Protein function: Proton-selective channel that specifically transports protons into cells. Proton-selective channel activity is probably required in cell types that use changes in intracellular pH for cell signaling or to regulate biochemical or developmental processes.
Reference sequence:
MSEELAQGPKESPPAPRAGPREVWKKGGRLLSVLLAVNVLLLACTLISGGAFNKVAVYDTDVFALLTAMMLLATLWILFYLLRTVRCPCAVPYRDAHAGPIWLRGGLVLFGICTLIMDVFKTGYYSSFFECQSAIKILHPLIQAVFVIIQTYFLWVSAKDCVHVHLDLTWCGLMFTLTTNLAIWMAAVVDESVHQSHSYSSSHSNASHARLISDQHADNPVGGDSCLCSTAVCQIFQQGYFYLYPFNIEYSLFASTMLYVMWKNVGRFLASTPGHSHTPTPVSLFRETFFAGPVLGLLLFVVGLAVFIIYEVQVSGDGSRTRQALVIYYSFNIVCLGLTTLVSLSGSIIYRFDRRAMDHHKNPTRTLDVALLMGAALGQYAISYYSIVAVVAGTPQDLLAGLNLTHALLMIAQHTFQNMFIIESLHRGPPGAEPHSTHPKEPCQDLTFTNLDALHTLSACPPNPGLVSPSPSDQREAVAIVSTPRSQWRRQCLKDISLFLLLCNVILWIMPAFGARPHFSNTVEVDFYGYSLWAVIVNICLPFGIFYRMHAVSSLLEVYVLS
UniProt ID: Q7RTS7
Variant: N -> K at position 148-148
Variant annotation: in ADWH; results in disruption of keratin intermediate filament formation in cultured cells; dbSNP:rs267607205
Protein function: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).
Reference sequence:
MSRQLNIKSSGDKGNFSVHSAVVPRKAVGSLASYCAAGRGAGAGFGSRSLYSLGGNRRISFNVAGGGVRAGGYGFRPGSGYGGGRASGFAGSMFGSVALGPACLSVCPPGGIHQVTVNKSLLAPLNVELDPEIQKVRAQEREQIKVLNDKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKKNLEPILEGYISNLRKQLETLSGDRVRLDSELRSMRDLVEDYKKRYEVEINRRTTAENEFVVLKKDADAAYAVKVELQAKVDSLDKEIKFLKCLYDAEIAQIQTHASETSVILSMDNNRDLDLDSIIAEVRMHYEEIALKSKAEAEALYQTKIQELQLAASRHGDDLKHTRSEMVELNRLIQRIRCEIGNVKKQRASLETAIADAEQRGDNALKDAQAKLDELEGALHQAKEELARMLREYQELMSLKLALDMEIATYRKLLEGEECRMSGENPSSVSISVISSSSYSYHHPSSAGVDLGASAVAGSSGSTQSGQTKTTEARGGDLKDTQGKSTPASIPARKATR
UniProt ID: Q7RTS7
Variant: N -> K at position 165-165
Variant annotation: in dbSNP:rs11170177
Protein function: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).
Reference sequence:
MSRQLNIKSSGDKGNFSVHSAVVPRKAVGSLASYCAAGRGAGAGFGSRSLYSLGGNRRISFNVAGGGVRAGGYGFRPGSGYGGGRASGFAGSMFGSVALGPACLSVCPPGGIHQVTVNKSLLAPLNVELDPEIQKVRAQEREQIKVLNDKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKKNLEPILEGYISNLRKQLETLSGDRVRLDSELRSMRDLVEDYKKRYEVEINRRTTAENEFVVLKKDADAAYAVKVELQAKVDSLDKEIKFLKCLYDAEIAQIQTHASETSVILSMDNNRDLDLDSIIAEVRMHYEEIALKSKAEAEALYQTKIQELQLAASRHGDDLKHTRSEMVELNRLIQRIRCEIGNVKKQRASLETAIADAEQRGDNALKDAQAKLDELEGALHQAKEELARMLREYQELMSLKLALDMEIATYRKLLEGEECRMSGENPSSVSISVISSSSYSYHHPSSAGVDLGASAVAGSSGSTQSGQTKTTEARGGDLKDTQGKSTPASIPARKATR
UniProt ID: Q7RTS7
Variant: L -> Q at position 178-178
Variant annotation: in dbSNP:rs11170176
Protein function: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).
Reference sequence:
MSRQLNIKSSGDKGNFSVHSAVVPRKAVGSLASYCAAGRGAGAGFGSRSLYSLGGNRRISFNVAGGGVRAGGYGFRPGSGYGGGRASGFAGSMFGSVALGPACLSVCPPGGIHQVTVNKSLLAPLNVELDPEIQKVRAQEREQIKVLNDKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKKNLEPILEGYISNLRKQLETLSGDRVRLDSELRSMRDLVEDYKKRYEVEINRRTTAENEFVVLKKDADAAYAVKVELQAKVDSLDKEIKFLKCLYDAEIAQIQTHASETSVILSMDNNRDLDLDSIIAEVRMHYEEIALKSKAEAEALYQTKIQELQLAASRHGDDLKHTRSEMVELNRLIQRIRCEIGNVKKQRASLETAIADAEQRGDNALKDAQAKLDELEGALHQAKEELARMLREYQELMSLKLALDMEIATYRKLLEGEECRMSGENPSSVSISVISSSSYSYHHPSSAGVDLGASAVAGSSGSTQSGQTKTTEARGGDLKDTQGKSTPASIPARKATR
UniProt ID: Q7RTS7
Variant: E -> D at position 271-271
Variant annotation: in dbSNP:rs670741
Protein function: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).
Reference sequence:
MSRQLNIKSSGDKGNFSVHSAVVPRKAVGSLASYCAAGRGAGAGFGSRSLYSLGGNRRISFNVAGGGVRAGGYGFRPGSGYGGGRASGFAGSMFGSVALGPACLSVCPPGGIHQVTVNKSLLAPLNVELDPEIQKVRAQEREQIKVLNDKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKKNLEPILEGYISNLRKQLETLSGDRVRLDSELRSMRDLVEDYKKRYEVEINRRTTAENEFVVLKKDADAAYAVKVELQAKVDSLDKEIKFLKCLYDAEIAQIQTHASETSVILSMDNNRDLDLDSIIAEVRMHYEEIALKSKAEAEALYQTKIQELQLAASRHGDDLKHTRSEMVELNRLIQRIRCEIGNVKKQRASLETAIADAEQRGDNALKDAQAKLDELEGALHQAKEELARMLREYQELMSLKLALDMEIATYRKLLEGEECRMSGENPSSVSISVISSSSYSYHHPSSAGVDLGASAVAGSSGSTQSGQTKTTEARGGDLKDTQGKSTPASIPARKATR
UniProt ID: Q7RTS7
Variant: F -> S at position 274-274
Variant annotation: in ECTD7; autosomal recessive; dbSNP:rs147962513
Protein function: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).
Reference sequence:
MSRQLNIKSSGDKGNFSVHSAVVPRKAVGSLASYCAAGRGAGAGFGSRSLYSLGGNRRISFNVAGGGVRAGGYGFRPGSGYGGGRASGFAGSMFGSVALGPACLSVCPPGGIHQVTVNKSLLAPLNVELDPEIQKVRAQEREQIKVLNDKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKKNLEPILEGYISNLRKQLETLSGDRVRLDSELRSMRDLVEDYKKRYEVEINRRTTAENEFVVLKKDADAAYAVKVELQAKVDSLDKEIKFLKCLYDAEIAQIQTHASETSVILSMDNNRDLDLDSIIAEVRMHYEEIALKSKAEAEALYQTKIQELQLAASRHGDDLKHTRSEMVELNRLIQRIRCEIGNVKKQRASLETAIADAEQRGDNALKDAQAKLDELEGALHQAKEELARMLREYQELMSLKLALDMEIATYRKLLEGEECRMSGENPSSVSISVISSSSYSYHHPSSAGVDLGASAVAGSSGSTQSGQTKTTEARGGDLKDTQGKSTPASIPARKATR
UniProt ID: Q7RTS7
Variant: R -> Q at position 392-392
Variant annotation: in dbSNP:rs57387512
Protein function: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).
Reference sequence:
MSRQLNIKSSGDKGNFSVHSAVVPRKAVGSLASYCAAGRGAGAGFGSRSLYSLGGNRRISFNVAGGGVRAGGYGFRPGSGYGGGRASGFAGSMFGSVALGPACLSVCPPGGIHQVTVNKSLLAPLNVELDPEIQKVRAQEREQIKVLNDKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKKNLEPILEGYISNLRKQLETLSGDRVRLDSELRSMRDLVEDYKKRYEVEINRRTTAENEFVVLKKDADAAYAVKVELQAKVDSLDKEIKFLKCLYDAEIAQIQTHASETSVILSMDNNRDLDLDSIIAEVRMHYEEIALKSKAEAEALYQTKIQELQLAASRHGDDLKHTRSEMVELNRLIQRIRCEIGNVKKQRASLETAIADAEQRGDNALKDAQAKLDELEGALHQAKEELARMLREYQELMSLKLALDMEIATYRKLLEGEECRMSGENPSSVSISVISSSSYSYHHPSSAGVDLGASAVAGSSGSTQSGQTKTTEARGGDLKDTQGKSTPASIPARKATR
UniProt ID: Q7RTS7
Variant: E -> K at position 424-424
Variant annotation: in dbSNP:rs57711382
Protein function: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).
Reference sequence:
MSRQLNIKSSGDKGNFSVHSAVVPRKAVGSLASYCAAGRGAGAGFGSRSLYSLGGNRRISFNVAGGGVRAGGYGFRPGSGYGGGRASGFAGSMFGSVALGPACLSVCPPGGIHQVTVNKSLLAPLNVELDPEIQKVRAQEREQIKVLNDKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKKNLEPILEGYISNLRKQLETLSGDRVRLDSELRSMRDLVEDYKKRYEVEINRRTTAENEFVVLKKDADAAYAVKVELQAKVDSLDKEIKFLKCLYDAEIAQIQTHASETSVILSMDNNRDLDLDSIIAEVRMHYEEIALKSKAEAEALYQTKIQELQLAASRHGDDLKHTRSEMVELNRLIQRIRCEIGNVKKQRASLETAIADAEQRGDNALKDAQAKLDELEGALHQAKEELARMLREYQELMSLKLALDMEIATYRKLLEGEECRMSGENPSSVSISVISSSSYSYHHPSSAGVDLGASAVAGSSGSTQSGQTKTTEARGGDLKDTQGKSTPASIPARKATR
UniProt ID: Q7RTS7
Variant: D -> N at position 482-482
Variant annotation: in HYPT3; dbSNP:rs267607477
Protein function: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).
Reference sequence:
MSRQLNIKSSGDKGNFSVHSAVVPRKAVGSLASYCAAGRGAGAGFGSRSLYSLGGNRRISFNVAGGGVRAGGYGFRPGSGYGGGRASGFAGSMFGSVALGPACLSVCPPGGIHQVTVNKSLLAPLNVELDPEIQKVRAQEREQIKVLNDKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKKNLEPILEGYISNLRKQLETLSGDRVRLDSELRSMRDLVEDYKKRYEVEINRRTTAENEFVVLKKDADAAYAVKVELQAKVDSLDKEIKFLKCLYDAEIAQIQTHASETSVILSMDNNRDLDLDSIIAEVRMHYEEIALKSKAEAEALYQTKIQELQLAASRHGDDLKHTRSEMVELNRLIQRIRCEIGNVKKQRASLETAIADAEQRGDNALKDAQAKLDELEGALHQAKEELARMLREYQELMSLKLALDMEIATYRKLLEGEECRMSGENPSSVSISVISSSSYSYHHPSSAGVDLGASAVAGSSGSTQSGQTKTTEARGGDLKDTQGKSTPASIPARKATR
UniProt ID: Q7RTS9
Variant: E -> K at position 87-87
Variant annotation: in SMC1; does not affect protein localization; dbSNP:rs120074164
Protein function: Necessary for correct organization of Golgi apparatus. Involved in bone development.
Reference sequence:
MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISVCRSLVENNPRTGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQMSEEELQLHFTYEEKSPGNYSSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMVVFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLYNFIRQEKPPPPGAHVFPQQSDGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILKNITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSVERVLEIIKQGVVALPKDRLKKFPELKFKYVEEEQPEEFFIPYVWSLVYNSAVGLYWNPQDIQLFTMDSD
UniProt ID: Q7RTS9
Variant: N -> Y at position 469-469
Variant annotation: in DMC; results in protein mis-localization and aggregation; dbSNP:rs120074163
Protein function: Necessary for correct organization of Golgi apparatus. Involved in bone development.
Reference sequence:
MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISVCRSLVENNPRTGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQMSEEELQLHFTYEEKSPGNYSSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMVVFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLYNFIRQEKPPPPGAHVFPQQSDGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILKNITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSVERVLEIIKQGVVALPKDRLKKFPELKFKYVEEEQPEEFFIPYVWSLVYNSAVGLYWNPQDIQLFTMDSD
UniProt ID: Q7RTS9
Variant: C -> R at position 542-542
Variant annotation: in SMC1; dbSNP:rs120074165
Protein function: Necessary for correct organization of Golgi apparatus. Involved in bone development.
Reference sequence:
MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISVCRSLVENNPRTGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQMSEEELQLHFTYEEKSPGNYSSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMVVFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLYNFIRQEKPPPPGAHVFPQQSDGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILKNITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSVERVLEIIKQGVVALPKDRLKKFPELKFKYVEEEQPEEFFIPYVWSLVYNSAVGLYWNPQDIQLFTMDSD
UniProt ID: Q7RTT5
Variant: L -> S at position 43-43
Variant annotation: in dbSNP:rs3122210
Protein function: Could act as a modulator of transcription.
Reference sequence:
MNGDDAFARRPRAGAQIPEKIQKSFDDIAKYFSKKEWEKMKSLEKISYVYMKRKYEAMTKLGFKATLPPFMHNTGATDLQGNDFDNDRNQGNQVERPQMTFCRLQRIFPKIMPKKPAEEGNDSKGVPEASGSQNDGKHLCPPGKPSTSEKINKTSGPKRGKHAWTHRLRERKQLVIYEEISDPEEDDE
UniProt ID: Q7RTU9
Variant: L -> F at position 1640-1640
Variant annotation: in dbSNP:rs2920791
Protein function: Essential to the formation of horizontal top connectors between outer hair cell stereocilia.
Reference sequence:
MALSLWPLLLLLLLLLLLSFAVTLAPTGPHSLDPGLSFLKSLLSTLDQAPQGSLSRSRFFTFLANISSSFEPGRMGEGPVGEPPPLQPPALRLHDFLVTLRGSPDWEPMLGLLGDMLALLGQEQTPRDFLVHQAGVLGGLVEVLLGALVPGGPPTPTRPPCTRDGPSDCVLAADWLPSLLLLLEGTRWQALVQVQPSVDPTNATGLDGREAAPHFLQGLLGLLTPTGELGSKEALWGGLLRTVGAPLYAAFQEGLLRVTHSLQDEVFSILGQPEPDTNGQCQGGNLQQLLLWGVRHNLSWDVQALGFLSGSPPPPPALLHCLSTGVPLPRASQPSAHISPRQRRAITVEALCENHLGPAPPYSISNFSIHLLCQHTKPATPQPHPSTTAICQTAVWYAVSWAPGAQGWLQACHDQFPDEFLDAICSNLSFSALSGSNRRLVKRLCAGLLPPPTSCPEGLPPVPLTPDIFWGCFLENETLWAERLCGEASLQAVPPSNQAWVQHVCQGPTPDVTASPPCHIGPCGERCPDGGSFLVMVCANDTMYEVLVPFWPWLAGQCRISRGGNDTCFLEGLLGPLLPSLPPLGPSPLCLTPGPFLLGMLSQLPRCQSSVPALAHPTRLHYLLRLLTFLLGPGAGGAEAQGMLGRALLLSSLPDNCSFWDAFRPEGRRSVLRTIGEYLEQDEEQPTPSGFEPTVNPSSGISKMELLACFSPVLWDLLQREKSVWALQILVQAYLHMPPENLQQLVLSAEREAAQGFLTLMLQGKLQGKLQVPPSEEQALGRLTALLLQRYPRLTSQLFIDLSPLIPFLAVSDLMRFPPSLLANDSVLAAIRDYSPGMRPEQKEALAKRLLAPELFGEVPAWPQELLWAVLPLLPHLPLENFLQLSPHQIQALEDSWPAAGLGPGHARHVLRSLVNQSVQDGEEQVRRLGPLACFLSPEELQSLVPLSDPTGPVERGLLECAANGTLSPEGRVAYELLGVLRSSGGAVLSPRELRVWAPLFSQLGLRFLQELSEPQLRAMLPVLQGTSVTPAQAVLLLGRLLPRHDLSLEELCSLHLLLPGLSPQTLQAIPRRVLVGACSCLAPELSRLSACQTAALLQTFRVKDGVKNMGTTGAGPAVCIPGQPIPTTWPDCLLPLLPLKLLQLDSLALLANRRRYWELPWSEQQAQFLWKKMQVPTNLTLRNLQALGTLAGGMSCEFLQQINSMVDFLEVVHMIYQLPTRVRGSLRACIWAELQRRMAMPEPEWTTVGPELNGLDSKLLLDLPIQLMDRLSNESIMLVVELVQRAPEQLLALTPLHQAALAERALQNLAPKETPVSGEVLETLGPLVGFLGTESTRQIPLQILLSHLSQLQGFCLGETFATELGWLLLQESVLGKPELWSQDEVEQAGRLVFTLSTEAISLIPREALGPETLERLLEKQQSWEQSRVGQLCREPQLAAKKAALVAGVVRPAAEDLPEPVPNCADVRGTFPAAWSATQIAEMELSDFEDCLTLFAGDPGLGPEELRAAMGKAKQLWGPPRGFRPEQILQLGRLLIGLGDRELQELILVDWGVLSTLGQIDGWSTTQLRIVVSSFLRQSGRHVSHLDFVHLTALGYTLCGLRPEELQHISSWEFSQAALFLGTLHLQCSEEQLEVLAHLLVLPGGFGPISNWGPEIFTEIGTIAAGIPDLALSALLRGQIQGVTPLAISVIPPPKFAVVFSPIQLSSLTSAQAVAVTPEQMAFLSPEQRRAVAWAQHEGKESPEQQGRSTAWGLQDWSRPSWSLVLTISFLGHLL
UniProt ID: Q7RTV5
Variant: R -> K at position 83-83
Variant annotation: in dbSNP:rs9886834
Protein function: May regulate positively ERK1/2 signaling and AKT1 activation leading to HIF1A up-regulation with an increased expression of glycolysis genes and enhanced glycolysis.
Reference sequence:
MAAPAPVTRQVSGAAALVPAPSGPDSGQPLAAAVAELPVLDARGQRVPFGALFRERRAVVVFVRHFLCYICKEYVEDLAKIPRSFLQEANVTLIVIGQSSYHHIEPFCKLTGYSHEIYVDPEREIYKRLGMKRGEEIASSGQSPHIKSNLLSGSLQSLWRAVTGPLFDFQGDPAQQGGTLILGPGNNIHFIHRDRNRLDHKPINSVLQLVGVQHVNFTNRPSVIHV
UniProt ID: Q7RTX1
Variant: K -> E at position 347-347
Variant annotation: in dbSNP:rs10864628
Protein function: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses.
Reference sequence:
MLLCTARLVGLQLLISCCWAFACHSTESSPDFTLPGDYLLAGLFPLHSGCLQVRHRPEVTLCDRSCSFNEHGYHLFQAMRLGVEEINNSTALLPNITLGYQLYDVCSDSANVYATLRVLSLPGQHHIELQGDLLHYSPTVLAVIGPDSTNRAATTAALLSPFLVPMISYAASSETLSVKRQYPSFLRTIPNDKYQVETMVLLLQKFGWTWISLVGSSDDYGQLGVQALENQATGQGICIAFKDIMPFSAQVGDERMQCLMRHLAQAGATVVVVFSSRQLARVFFESVVLTNLTGKVWVASEAWALSRHITGVPGIQRIGMVLGVAIQKRAVPGLKAFEEAYARADKKAPRPCHKGSWCSSNQLCRECQAFMAHTMPKLKAFSMSSAYNAYRAVYAVAHGLHQLLGCASGACSRGRVYPWQLLEQIHKVHFLLHKDTVAFNDNRDPLSSYNIIAWDWNGPKWTFTVLGSSTWSPVQLNINETKIQWHGKDNQVPKSVCSSDCLEGHQRVVTGFHHCCFECVPCGAGTFLNKSDLYRCQPCGKEEWAPEGSQTCFPRTVVFLALREHTSWVLLAANTLLLLLLLGTAGLFAWHLDTPVVRSAGGRLCFLMLGSLAAGSGSLYGFFGEPTRPACLLRQALFALGFTIFLSCLTVRSFQLIIIFKFSTKVPTFYHAWVQNHGAGLFVMISSAAQLLICLTWLVVWTPLPAREYQRFPHLVMLECTETNSLGFILAFLYNGLLSISAFACSYLGKDLPENYNEAKCVTFSLLFNFVSWIAFFTTASVYDGKYLPAANMMAGLSSLSSGFGGYFLPKCYVILCRPDLNSTEHFQASIQDYTRRCGST
UniProt ID: Q7RTX1
Variant: A -> T at position 372-372
Variant annotation: in dbSNP:rs34160967
Protein function: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses.
Reference sequence:
MLLCTARLVGLQLLISCCWAFACHSTESSPDFTLPGDYLLAGLFPLHSGCLQVRHRPEVTLCDRSCSFNEHGYHLFQAMRLGVEEINNSTALLPNITLGYQLYDVCSDSANVYATLRVLSLPGQHHIELQGDLLHYSPTVLAVIGPDSTNRAATTAALLSPFLVPMISYAASSETLSVKRQYPSFLRTIPNDKYQVETMVLLLQKFGWTWISLVGSSDDYGQLGVQALENQATGQGICIAFKDIMPFSAQVGDERMQCLMRHLAQAGATVVVVFSSRQLARVFFESVVLTNLTGKVWVASEAWALSRHITGVPGIQRIGMVLGVAIQKRAVPGLKAFEEAYARADKKAPRPCHKGSWCSSNQLCRECQAFMAHTMPKLKAFSMSSAYNAYRAVYAVAHGLHQLLGCASGACSRGRVYPWQLLEQIHKVHFLLHKDTVAFNDNRDPLSSYNIIAWDWNGPKWTFTVLGSSTWSPVQLNINETKIQWHGKDNQVPKSVCSSDCLEGHQRVVTGFHHCCFECVPCGAGTFLNKSDLYRCQPCGKEEWAPEGSQTCFPRTVVFLALREHTSWVLLAANTLLLLLLLGTAGLFAWHLDTPVVRSAGGRLCFLMLGSLAAGSGSLYGFFGEPTRPACLLRQALFALGFTIFLSCLTVRSFQLIIIFKFSTKVPTFYHAWVQNHGAGLFVMISSAAQLLICLTWLVVWTPLPAREYQRFPHLVMLECTETNSLGFILAFLYNGLLSISAFACSYLGKDLPENYNEAKCVTFSLLFNFVSWIAFFTTASVYDGKYLPAANMMAGLSSLSSGFGGYFLPKCYVILCRPDLNSTEHFQASIQDYTRRCGST
UniProt ID: Q7RTX1
Variant: R -> Q at position 507-507
Variant annotation: in dbSNP:rs35118458
Protein function: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses.
Reference sequence:
MLLCTARLVGLQLLISCCWAFACHSTESSPDFTLPGDYLLAGLFPLHSGCLQVRHRPEVTLCDRSCSFNEHGYHLFQAMRLGVEEINNSTALLPNITLGYQLYDVCSDSANVYATLRVLSLPGQHHIELQGDLLHYSPTVLAVIGPDSTNRAATTAALLSPFLVPMISYAASSETLSVKRQYPSFLRTIPNDKYQVETMVLLLQKFGWTWISLVGSSDDYGQLGVQALENQATGQGICIAFKDIMPFSAQVGDERMQCLMRHLAQAGATVVVVFSSRQLARVFFESVVLTNLTGKVWVASEAWALSRHITGVPGIQRIGMVLGVAIQKRAVPGLKAFEEAYARADKKAPRPCHKGSWCSSNQLCRECQAFMAHTMPKLKAFSMSSAYNAYRAVYAVAHGLHQLLGCASGACSRGRVYPWQLLEQIHKVHFLLHKDTVAFNDNRDPLSSYNIIAWDWNGPKWTFTVLGSSTWSPVQLNINETKIQWHGKDNQVPKSVCSSDCLEGHQRVVTGFHHCCFECVPCGAGTFLNKSDLYRCQPCGKEEWAPEGSQTCFPRTVVFLALREHTSWVLLAANTLLLLLLLGTAGLFAWHLDTPVVRSAGGRLCFLMLGSLAAGSGSLYGFFGEPTRPACLLRQALFALGFTIFLSCLTVRSFQLIIIFKFSTKVPTFYHAWVQNHGAGLFVMISSAAQLLICLTWLVVWTPLPAREYQRFPHLVMLECTETNSLGFILAFLYNGLLSISAFACSYLGKDLPENYNEAKCVTFSLLFNFVSWIAFFTTASVYDGKYLPAANMMAGLSSLSSGFGGYFLPKCYVILCRPDLNSTEHFQASIQDYTRRCGST
UniProt ID: Q7SID6
Variant: A -> P at position 39-39
Protein function: Snake venom phospholipase A2 (PLA2) that inhibits ADP-induced platelet aggregation. PLA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides.
Reference sequence:
SLIQFETLIMKVVKKSGMFWYSAYGCYCGWGGHGRPQDATDRCCFVHDCCYGKVTGCDPKMDSYTYSEENGDIVCGGDDPCKREICECDRVAAVCFRDNLDTYNSDTYWRYPTKNCQEEPDPC
UniProt ID: Q7SID6
Variant: G -> S at position 56-56
Protein function: Snake venom phospholipase A2 (PLA2) that inhibits ADP-induced platelet aggregation. PLA2 catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides.
Reference sequence:
SLIQFETLIMKVVKKSGMFWYSAYGCYCGWGGHGRPQDATDRCCFVHDCCYGKVTGCDPKMDSYTYSEENGDIVCGGDDPCKREICECDRVAAVCFRDNLDTYNSDTYWRYPTKNCQEEPDPC
UniProt ID: Q7TMD7
Variant: Y -> S at position 196-196
Variant annotation: in lah
Protein function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes.
Reference sequence:
MDWLLFRNICLLILFMVVLGVNSEFIVEVKELDIENGTTTWQTVRRQKREWIKFAAACREGEDNSKRNPIARIRSDCEVSQRITYRISGAGIDRPPYGVFTINPRTGEINITSVVDREITPLFLIHCRALNSRGEDLERPLELRVKVMDVNDNPPVFTQNVYTANIEENSDANALVVKLSATDADEDNHLNSKIAYKIISQEPAGAPMFMVNRYTGEVRTMSNFLDREQHSMYNLLVRGSDRDGATDGLSSECDCRIKILDVNDNFPILEKTSYSASIEENCLSSELIRLQAIDLDEEGTDNWLAQYSILSGNDGNWFEIQTDPKTNEGILKVVKMLDYEQEPNIYLSIGVRNQAEFHHSVASQFQMHSTPVRIQVVNVREGPTFSPSSMTFSLRGGMRGASLMNYVLGTYTAIDMDTGNPATNVRYVIGHDAGSWLKVDSRTGEIQFSREFDMKSKYITDGIYAAQILAIDDGSGRTATGTICIEIPDANDYCPVIYAESRSVCTHASSVRIYVNDHSFGSPFTFCVVDESPDIANIWDIRSINGTSAILMTEQTLSPGPYQIPILVKDSHNRACELPQTVLLDACFCDDHHVCLHSSTTGIYTGDITWVTDDMYGTVTDDGVRQSNVGLGPAGIGMIILGLLLLLLSPLLLLMCCCKRRQPEGLGTRFAPVPEGGEGVMQPWRIEGAHPEDRDVSNICVPMTASNTQDRIDSSEIYTNTYAGGGTVEGGVSGVELNTGVGTATGMVAAGATGTLRKRSSTIGTLREYQDTGMNMAFLDSYFSEKAYAYADEDEGRPANDCLLIYDHEGAGSPVGSIGCCSWIVDDLDESYIETLDPKFRTLAEICLDTEIEPFPSHQACIPISTDLPLLGPNYFVNESSGMTLSEAEFQAEMAAASEPMIHGDIIVTETYTTSDPCVQPTTIVFDSQIPPNVVVTETVMAPVYDVQGNICVPAEIANTHNVYYAERVVASPGIPDMGNSNISDACIGPVMSGGILVGPEIQVTQMMSPDIHISQTTGSTSPMTSQHRVTRYSNMHYSRQ
UniProt ID: Q7TPB1
Variant: C -> Y at position 450-450
Variant annotation: in mf
Protein function: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. The TRiC complex plays a role in the folding of actin and tubulin.
Reference sequence:
MPENVASRSGPPAAGPGNRGKGAYQDRDKPAQIRFSNISAAKAVADAIRTSLGPKGMDKMIQDGKGDVTITNDGATILKQMQVLHPAARMLVELSKAQDIEAGDGTTSVVIIAGSLLDSCTKLLQKGIHPTIISESFQKALEKGLEILTDMSRPVQLSDRETLLNSATTSLNSKVVSQYSSLLSPMSVNAVMKVIDPATATSVDLRDIKIVKKLGGTIDDCELVEGLVLTQKVANSGITRVEKAKIGLIQFCLSAPKTDMDNQIVVSDYAQMDRVLREERAYILNLVKQIKKTGCNVLLIQKSILRDALSDLALHFLNKMKIMVVKDIEREDIEFICKTIGTKPVAHIDQFTPDMLGSAELAEEVSLNGSGKLFKITGCTSPGKTVTIVVRGSNKLVIEEAERSIHDALCVIRCLVKKRALIAGGGAPEIELALRLTEYSRTLSGMESYCVRAFADAMEVIPSTLAENAGLNPISTVTELRNRHAQGEKTTGINVRKGGISNILEEMVVQPLLVSVSALTLATETVRSILKIDDVVNTR
UniProt ID: Q7XA39
Variant: L -> V at position 45-45
Variant annotation: in susceptible haplotype
Protein function: Disease resistance protein. Resistance proteins guard the plant against pathogens that contain an appropriate avirulence protein via a direct or indirect interaction with this avirulence protein. That triggers a defense system which restricts the pathogen growth.
Reference sequence:
MAEAFLQVLLENLTSFIGDKLVLIFGFEKECEKLSSVFSTIQAVLQDAQEKQLKDKAIENWLQKLNSAAYEVDDILGECKNEAIRFEQSRLGFYHPGIINFRHKIGRRMKEIMEKLDAISEERRKFHFLEKITERQAAAATRETGFVLTEPKVYGRDKEEDEIVKILINNVNVAEELPVFPIIGMGGLGKTTLAQMIFNDERVTKHFNPKIWVCVSDDFDEKRLIKTIIGNIERSSPHVEDLASFQKKLQELLNGKRYLLVLDDVWNDDLEKWAKLRAVLTVGARGASILATTRLEKVGSIMGTLQPYHLSNLSPHDSLLLFMQRAFGQQKEANPNLVAIGKEIVKKCGGVPLAAKTLGGLLRFKREESEWEHVRDNEIWSLPQDESSILPALRLSYHHLPLDLRQCFAYCAVFPKDTKMIKENLITLWMAHGFLLSKGNLELEDVGNEVWNELYLRSFFQEIEAKSGNTYFKIHDLIHDLATSLFSASASCGNIREINVKDYKHTVSIGFAAVVSSYSPSLLKKFVSLRVLNLSYSKLEQLPSSIGDLLHLRYLDLSCNNFRSLPERLCKLQNLQTLDVHNCYSLNCLPKQTSKLSSLRHLVVDGCPLTSTPPRIGLLTCLKTLGFFIVGSKKGYQLGELKNLNLCGSISITHLERVKNDTDAEANLSAKANLQSLSMSWDNDGPNRYESKEVKVLEALKPHPNLKYLEIIAFGGFRFPSWINHSVLEKVISVRIKSCKNCLCLPPFGELPCLENLELQNGSAEVEYVEEDDVHSRFSTRRSFPSLKKLRIWFFRSLKGLMKEEGEEKFPMLEEMAILYCPLFVFPTLSSVKKLEVHGNTNTRGLSSISNLSTLTSLRIGANYRATSLPEEMFTSLTNLEFLSFFDFKNLKDLPTSLTSLNALKRLQIESCDSLESFPEQGLEGLTSLTQLFVKYCKMLKCLPEGLQHLTALTNLGVSGCPEVEKRCDKEIGEDWHKIAHIPNLDIH
UniProt ID: Q7XA39
Variant: S -> A at position 120-120
Variant annotation: in susceptible haplotype
Protein function: Disease resistance protein. Resistance proteins guard the plant against pathogens that contain an appropriate avirulence protein via a direct or indirect interaction with this avirulence protein. That triggers a defense system which restricts the pathogen growth.
Reference sequence:
MAEAFLQVLLENLTSFIGDKLVLIFGFEKECEKLSSVFSTIQAVLQDAQEKQLKDKAIENWLQKLNSAAYEVDDILGECKNEAIRFEQSRLGFYHPGIINFRHKIGRRMKEIMEKLDAISEERRKFHFLEKITERQAAAATRETGFVLTEPKVYGRDKEEDEIVKILINNVNVAEELPVFPIIGMGGLGKTTLAQMIFNDERVTKHFNPKIWVCVSDDFDEKRLIKTIIGNIERSSPHVEDLASFQKKLQELLNGKRYLLVLDDVWNDDLEKWAKLRAVLTVGARGASILATTRLEKVGSIMGTLQPYHLSNLSPHDSLLLFMQRAFGQQKEANPNLVAIGKEIVKKCGGVPLAAKTLGGLLRFKREESEWEHVRDNEIWSLPQDESSILPALRLSYHHLPLDLRQCFAYCAVFPKDTKMIKENLITLWMAHGFLLSKGNLELEDVGNEVWNELYLRSFFQEIEAKSGNTYFKIHDLIHDLATSLFSASASCGNIREINVKDYKHTVSIGFAAVVSSYSPSLLKKFVSLRVLNLSYSKLEQLPSSIGDLLHLRYLDLSCNNFRSLPERLCKLQNLQTLDVHNCYSLNCLPKQTSKLSSLRHLVVDGCPLTSTPPRIGLLTCLKTLGFFIVGSKKGYQLGELKNLNLCGSISITHLERVKNDTDAEANLSAKANLQSLSMSWDNDGPNRYESKEVKVLEALKPHPNLKYLEIIAFGGFRFPSWINHSVLEKVISVRIKSCKNCLCLPPFGELPCLENLELQNGSAEVEYVEEDDVHSRFSTRRSFPSLKKLRIWFFRSLKGLMKEEGEEKFPMLEEMAILYCPLFVFPTLSSVKKLEVHGNTNTRGLSSISNLSTLTSLRIGANYRATSLPEEMFTSLTNLEFLSFFDFKNLKDLPTSLTSLNALKRLQIESCDSLESFPEQGLEGLTSLTQLFVKYCKMLKCLPEGLQHLTALTNLGVSGCPEVEKRCDKEIGEDWHKIAHIPNLDIH
UniProt ID: Q7XA39
Variant: L -> S at position 305-305
Variant annotation: in susceptible haplotype
Protein function: Disease resistance protein. Resistance proteins guard the plant against pathogens that contain an appropriate avirulence protein via a direct or indirect interaction with this avirulence protein. That triggers a defense system which restricts the pathogen growth.
Reference sequence:
MAEAFLQVLLENLTSFIGDKLVLIFGFEKECEKLSSVFSTIQAVLQDAQEKQLKDKAIENWLQKLNSAAYEVDDILGECKNEAIRFEQSRLGFYHPGIINFRHKIGRRMKEIMEKLDAISEERRKFHFLEKITERQAAAATRETGFVLTEPKVYGRDKEEDEIVKILINNVNVAEELPVFPIIGMGGLGKTTLAQMIFNDERVTKHFNPKIWVCVSDDFDEKRLIKTIIGNIERSSPHVEDLASFQKKLQELLNGKRYLLVLDDVWNDDLEKWAKLRAVLTVGARGASILATTRLEKVGSIMGTLQPYHLSNLSPHDSLLLFMQRAFGQQKEANPNLVAIGKEIVKKCGGVPLAAKTLGGLLRFKREESEWEHVRDNEIWSLPQDESSILPALRLSYHHLPLDLRQCFAYCAVFPKDTKMIKENLITLWMAHGFLLSKGNLELEDVGNEVWNELYLRSFFQEIEAKSGNTYFKIHDLIHDLATSLFSASASCGNIREINVKDYKHTVSIGFAAVVSSYSPSLLKKFVSLRVLNLSYSKLEQLPSSIGDLLHLRYLDLSCNNFRSLPERLCKLQNLQTLDVHNCYSLNCLPKQTSKLSSLRHLVVDGCPLTSTPPRIGLLTCLKTLGFFIVGSKKGYQLGELKNLNLCGSISITHLERVKNDTDAEANLSAKANLQSLSMSWDNDGPNRYESKEVKVLEALKPHPNLKYLEIIAFGGFRFPSWINHSVLEKVISVRIKSCKNCLCLPPFGELPCLENLELQNGSAEVEYVEEDDVHSRFSTRRSFPSLKKLRIWFFRSLKGLMKEEGEEKFPMLEEMAILYCPLFVFPTLSSVKKLEVHGNTNTRGLSSISNLSTLTSLRIGANYRATSLPEEMFTSLTNLEFLSFFDFKNLKDLPTSLTSLNALKRLQIESCDSLESFPEQGLEGLTSLTQLFVKYCKMLKCLPEGLQHLTALTNLGVSGCPEVEKRCDKEIGEDWHKIAHIPNLDIH