sujigwak/NVAR huggingface dataset:
UniProt ID: Q8IZX4
Variant: I -> V at position 1805-1805
Variant annotation: in dbSNP:rs16918393
Protein function: May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced.
Reference sequence:
MRPGCDLLLRAAATVTAAIMSDSDSEEDSSGGGPFTLAGILFGNISGAGQLEGESVLDDECKKHLAGLGALGLGSLITELTANEELTGTGGALVNDEGWIRSTEDAVDYSDINEVAEDESQRHQQTMGSLQPLYHSDYDEDDYDADCEDIDCKLMPPPPPPPGPMKKDKDQDAITCVSESGEDIILPSIIAPSFLASEKVDFSSYSDSESEMGPQEATQAESEDGKLTLPLAGIMQHDATKLLPSVTELFPEFRPGKVLRFLHLFGPGKNVPSVWRSARRKRKKHRELIQEEQIQEVECSVESEVSQKSLWNYDYAPPPPPEQCLADDEITMMVPVESKFSQSTGDVDKVTDTKPRVAEWRYGPARLWYDMLGVSEDGSGFDYGFKLRKTQHEPVIKSRMMEEFRKLEESNGTDLLADENFLMVTQLHWEDSIIWDGEDIKHKGTKPQGASLAGWLPSIKTRNVMAYNVQQGFAPTLDDDKPWYSIFPIDNEDLVYGRWEDNIIWDAQAMPRLLEPPVLALDPNDENLILEIPDEKEEATSNSPSKESKKESSLKKSRILLGKTGVIREEPQQNMSQPEVKDPWNLSNDEYYFPKQQGLRGTFGGNIIQHSIPAMELWQPFFPTHMGPIKIRQFHRPPLKKYSFGALSQPGPHSVQPLLKHIKKKAKMREQERQASGGGELFFMRTPQDLTGKDGDLILAEYSEENGPLMMQVGMATKIKNYYKRKPGKDPGAPDCKYGETVYCHTSPFLGSLHPGQLLQALENNLFRAPVYLHKMPETDFLIIRTRQGYYIRELVDIFVVGQQCPLFEVPGPNSRRANMHIRDFLQVFIYRLFWKSKDRPRRIRMEDIKKAFPSHSESSIRKRLKLCADFKRTGMDSNWWVLKSDFRLPTEEEIRAKVSPEQCCAYYSMIAAKQRLKDAGYGEKSFFAPEEENEEDFQMKIDDEVHAAPWNTTRAFIAAMKGKCLLEVTGVADPTGCGEGFSYVKIPNKPTQQKDDKEPQAVKKTVTGTDADLRRLSLKNAKQLLRKFGVPEEEIKKLSRWEVIDVVRTMSTEQAHSGEGPMSKFARGSRFSVAEHQERYKEECQRIFDLQNKVLSSTEVLSTDTDSISAEDSDFEEMGKNIENMLQNKKTSSQLSREWEEQERKELRRMLLVAGSAASGNNHRDDVTASMTSLKSSATGHCLKIYRTFRDEEGKEYVRCETVRKPAVIDAYVRIRTTKDEKFIQKFALFDEKHREEMRKERRRIQEQLRRLKRNQEKEKLKGPPEKKPKKMKERPDLKLKCGACGAIGHMRTNKFCPLYYQTNVPPSKPVAMTEEQEEELEKTVIHNDNEELIKVEGTKIVFGKQLIENVHEVRRKSLVLKFPKQQLPPKKKRRVGTTVHCDYLNIPHKSIHRRRTDPMVTLSSILESIINDMRDLPNTHPFHTPVNAKVVKDYYKIITRPMDLQTLRENVRKCLYPSREEFREHLELIVKNSATYNGPKHSLTQISQSMLDLCDEKLKEKEDKLARLEKAINPLLDDDDQVAFSFILDNIVTQKMMAVPDSWPFHHPVNKKFVPDYYKMIVNPVDLETIRKNISKHKYQSRESFLDDVNLILANSVKYNGPESQYTKTAQEIVNICYQTITEYDEHLTQLEKDICTAKEAALEEAELESLDPMTPGPYTSQPPDMYDTNTSLSTSRDASVFQDESNLSVLDISTATPEKQMCQGQGRLGEEDSDVDVEGYDDEEEDGKPKPPAPEGGDGDLADEEEGTVQQPEASVLYEDLLISEGEDDEEDAGSDEEGDNPFSAIQLSESGSDSDVGYGGIRPKQPFMLQHASGEHKDGHGK
UniProt ID: Q8IZX4
Variant: P -> L at position 1810-1810
Variant annotation: in dbSNP:rs56342342
Protein function: May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced.
Reference sequence:
MRPGCDLLLRAAATVTAAIMSDSDSEEDSSGGGPFTLAGILFGNISGAGQLEGESVLDDECKKHLAGLGALGLGSLITELTANEELTGTGGALVNDEGWIRSTEDAVDYSDINEVAEDESQRHQQTMGSLQPLYHSDYDEDDYDADCEDIDCKLMPPPPPPPGPMKKDKDQDAITCVSESGEDIILPSIIAPSFLASEKVDFSSYSDSESEMGPQEATQAESEDGKLTLPLAGIMQHDATKLLPSVTELFPEFRPGKVLRFLHLFGPGKNVPSVWRSARRKRKKHRELIQEEQIQEVECSVESEVSQKSLWNYDYAPPPPPEQCLADDEITMMVPVESKFSQSTGDVDKVTDTKPRVAEWRYGPARLWYDMLGVSEDGSGFDYGFKLRKTQHEPVIKSRMMEEFRKLEESNGTDLLADENFLMVTQLHWEDSIIWDGEDIKHKGTKPQGASLAGWLPSIKTRNVMAYNVQQGFAPTLDDDKPWYSIFPIDNEDLVYGRWEDNIIWDAQAMPRLLEPPVLALDPNDENLILEIPDEKEEATSNSPSKESKKESSLKKSRILLGKTGVIREEPQQNMSQPEVKDPWNLSNDEYYFPKQQGLRGTFGGNIIQHSIPAMELWQPFFPTHMGPIKIRQFHRPPLKKYSFGALSQPGPHSVQPLLKHIKKKAKMREQERQASGGGELFFMRTPQDLTGKDGDLILAEYSEENGPLMMQVGMATKIKNYYKRKPGKDPGAPDCKYGETVYCHTSPFLGSLHPGQLLQALENNLFRAPVYLHKMPETDFLIIRTRQGYYIRELVDIFVVGQQCPLFEVPGPNSRRANMHIRDFLQVFIYRLFWKSKDRPRRIRMEDIKKAFPSHSESSIRKRLKLCADFKRTGMDSNWWVLKSDFRLPTEEEIRAKVSPEQCCAYYSMIAAKQRLKDAGYGEKSFFAPEEENEEDFQMKIDDEVHAAPWNTTRAFIAAMKGKCLLEVTGVADPTGCGEGFSYVKIPNKPTQQKDDKEPQAVKKTVTGTDADLRRLSLKNAKQLLRKFGVPEEEIKKLSRWEVIDVVRTMSTEQAHSGEGPMSKFARGSRFSVAEHQERYKEECQRIFDLQNKVLSSTEVLSTDTDSISAEDSDFEEMGKNIENMLQNKKTSSQLSREWEEQERKELRRMLLVAGSAASGNNHRDDVTASMTSLKSSATGHCLKIYRTFRDEEGKEYVRCETVRKPAVIDAYVRIRTTKDEKFIQKFALFDEKHREEMRKERRRIQEQLRRLKRNQEKEKLKGPPEKKPKKMKERPDLKLKCGACGAIGHMRTNKFCPLYYQTNVPPSKPVAMTEEQEEELEKTVIHNDNEELIKVEGTKIVFGKQLIENVHEVRRKSLVLKFPKQQLPPKKKRRVGTTVHCDYLNIPHKSIHRRRTDPMVTLSSILESIINDMRDLPNTHPFHTPVNAKVVKDYYKIITRPMDLQTLRENVRKCLYPSREEFREHLELIVKNSATYNGPKHSLTQISQSMLDLCDEKLKEKEDKLARLEKAINPLLDDDDQVAFSFILDNIVTQKMMAVPDSWPFHHPVNKKFVPDYYKMIVNPVDLETIRKNISKHKYQSRESFLDDVNLILANSVKYNGPESQYTKTAQEIVNICYQTITEYDEHLTQLEKDICTAKEAALEEAELESLDPMTPGPYTSQPPDMYDTNTSLSTSRDASVFQDESNLSVLDISTATPEKQMCQGQGRLGEEDSDVDVEGYDDEEEDGKPKPPAPEGGDGDLADEEEGTVQQPEASVLYEDLLISEGEDDEEDAGSDEEGDNPFSAIQLSESGSDSDVGYGGIRPKQPFMLQHASGEHKDGHGK
UniProt ID: Q8IZX4
Variant: H -> Q at position 1824-1824
Variant annotation: in a lung adenocarcinoma sample; somatic mutation; dbSNP:rs202147126
Protein function: May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced.
Reference sequence:
MRPGCDLLLRAAATVTAAIMSDSDSEEDSSGGGPFTLAGILFGNISGAGQLEGESVLDDECKKHLAGLGALGLGSLITELTANEELTGTGGALVNDEGWIRSTEDAVDYSDINEVAEDESQRHQQTMGSLQPLYHSDYDEDDYDADCEDIDCKLMPPPPPPPGPMKKDKDQDAITCVSESGEDIILPSIIAPSFLASEKVDFSSYSDSESEMGPQEATQAESEDGKLTLPLAGIMQHDATKLLPSVTELFPEFRPGKVLRFLHLFGPGKNVPSVWRSARRKRKKHRELIQEEQIQEVECSVESEVSQKSLWNYDYAPPPPPEQCLADDEITMMVPVESKFSQSTGDVDKVTDTKPRVAEWRYGPARLWYDMLGVSEDGSGFDYGFKLRKTQHEPVIKSRMMEEFRKLEESNGTDLLADENFLMVTQLHWEDSIIWDGEDIKHKGTKPQGASLAGWLPSIKTRNVMAYNVQQGFAPTLDDDKPWYSIFPIDNEDLVYGRWEDNIIWDAQAMPRLLEPPVLALDPNDENLILEIPDEKEEATSNSPSKESKKESSLKKSRILLGKTGVIREEPQQNMSQPEVKDPWNLSNDEYYFPKQQGLRGTFGGNIIQHSIPAMELWQPFFPTHMGPIKIRQFHRPPLKKYSFGALSQPGPHSVQPLLKHIKKKAKMREQERQASGGGELFFMRTPQDLTGKDGDLILAEYSEENGPLMMQVGMATKIKNYYKRKPGKDPGAPDCKYGETVYCHTSPFLGSLHPGQLLQALENNLFRAPVYLHKMPETDFLIIRTRQGYYIRELVDIFVVGQQCPLFEVPGPNSRRANMHIRDFLQVFIYRLFWKSKDRPRRIRMEDIKKAFPSHSESSIRKRLKLCADFKRTGMDSNWWVLKSDFRLPTEEEIRAKVSPEQCCAYYSMIAAKQRLKDAGYGEKSFFAPEEENEEDFQMKIDDEVHAAPWNTTRAFIAAMKGKCLLEVTGVADPTGCGEGFSYVKIPNKPTQQKDDKEPQAVKKTVTGTDADLRRLSLKNAKQLLRKFGVPEEEIKKLSRWEVIDVVRTMSTEQAHSGEGPMSKFARGSRFSVAEHQERYKEECQRIFDLQNKVLSSTEVLSTDTDSISAEDSDFEEMGKNIENMLQNKKTSSQLSREWEEQERKELRRMLLVAGSAASGNNHRDDVTASMTSLKSSATGHCLKIYRTFRDEEGKEYVRCETVRKPAVIDAYVRIRTTKDEKFIQKFALFDEKHREEMRKERRRIQEQLRRLKRNQEKEKLKGPPEKKPKKMKERPDLKLKCGACGAIGHMRTNKFCPLYYQTNVPPSKPVAMTEEQEEELEKTVIHNDNEELIKVEGTKIVFGKQLIENVHEVRRKSLVLKFPKQQLPPKKKRRVGTTVHCDYLNIPHKSIHRRRTDPMVTLSSILESIINDMRDLPNTHPFHTPVNAKVVKDYYKIITRPMDLQTLRENVRKCLYPSREEFREHLELIVKNSATYNGPKHSLTQISQSMLDLCDEKLKEKEDKLARLEKAINPLLDDDDQVAFSFILDNIVTQKMMAVPDSWPFHHPVNKKFVPDYYKMIVNPVDLETIRKNISKHKYQSRESFLDDVNLILANSVKYNGPESQYTKTAQEIVNICYQTITEYDEHLTQLEKDICTAKEAALEEAELESLDPMTPGPYTSQPPDMYDTNTSLSTSRDASVFQDESNLSVLDISTATPEKQMCQGQGRLGEEDSDVDVEGYDDEEEDGKPKPPAPEGGDGDLADEEEGTVQQPEASVLYEDLLISEGEDDEEDAGSDEEGDNPFSAIQLSESGSDSDVGYGGIRPKQPFMLQHASGEHKDGHGK
UniProt ID: Q8IZY5
Variant: A -> D at position 76-76
Variant annotation: in dbSNP:rs7116084
Protein function: Functions as a proapoptotic molecule through the caspase-dependent mitochondrial pathway of cell death.
Reference sequence:
MVTLLPIEGQEIHFFEILESECVLYTGWIERASGSSIYPEAKARLPLEALLGSNKEPMLPKETVLSLKRYNLGSSAMKRNVPGHVLQRPSYLTRIQVTLLCNSSAEAL
UniProt ID: Q8J025
Variant: L -> R at position 9-9
Variant annotation: in HYPT1; dominant-negative mutant that perturbs the translational processing from the endoplasmic reticulum to the plasma membrane; dbSNP:rs267606659
Protein function: Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. May play a role in colorectal tumorigenesis.
Reference sequence:
MSWPRRLLLRYLFPALLLHGLGEGSALLHPDSRSHPRSLEKSAWRAFKESQCHHMLKHLHNGARITVQMPPTIEGHWVSTGCEVRSGPEFITRSYRFYHNNTFKAYQFYYGSNRCTNPTYTLIIRGKIRLRQASWIIRGGTEADYQLHNVQVICHTEAVAEKLGQQVNRTCPGFLADGGPWVQDVAYDLWREENGCECTKAVNFAMHELQLIRVEKQYLHHNLDHLVEELFLGDIHTDATQRMFYRPSSYQPPLQNAKNHDHACIACRIIYRSDEHHPPILPPKADLTIGLHGEWVSQRCEVRPEVLFLTRHFIFHDNNNTWEGHYYHYSDPVCKHPTFSIYARGRYSRGVLSSRVMGGTEFVFKVNHMKVTPMDAATASLLNVFNGNECGAEGSWQVGIQQDVTHTNGCVALGIKLPHTEYEIFKMEQDARGRYLLFNGQRPSDGSSPDRPEKRATSYQMPLVQCASSSPRAEDLAEDSGSSLYGRAPGRHTWSLLLAALACLVPLLHWNIRR
UniProt ID: Q8J025
Variant: V -> I at position 150-150
Variant annotation: in dbSNP:rs3748415
Protein function: Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. May play a role in colorectal tumorigenesis.
Reference sequence:
MSWPRRLLLRYLFPALLLHGLGEGSALLHPDSRSHPRSLEKSAWRAFKESQCHHMLKHLHNGARITVQMPPTIEGHWVSTGCEVRSGPEFITRSYRFYHNNTFKAYQFYYGSNRCTNPTYTLIIRGKIRLRQASWIIRGGTEADYQLHNVQVICHTEAVAEKLGQQVNRTCPGFLADGGPWVQDVAYDLWREENGCECTKAVNFAMHELQLIRVEKQYLHHNLDHLVEELFLGDIHTDATQRMFYRPSSYQPPLQNAKNHDHACIACRIIYRSDEHHPPILPPKADLTIGLHGEWVSQRCEVRPEVLFLTRHFIFHDNNNTWEGHYYHYSDPVCKHPTFSIYARGRYSRGVLSSRVMGGTEFVFKVNHMKVTPMDAATASLLNVFNGNECGAEGSWQVGIQQDVTHTNGCVALGIKLPHTEYEIFKMEQDARGRYLLFNGQRPSDGSSPDRPEKRATSYQMPLVQCASSSPRAEDLAEDSGSSLYGRAPGRHTWSLLLAALACLVPLLHWNIRR
UniProt ID: Q8K2X1
Variant: V -> A at position 700-700
Variant annotation: in strain: CAST, MAI, MBT and PWK
Protein function: Catalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of the plasma membrane.
Reference sequence:
MTELLQWARHHWRRLSHGRAQGEDERPYNYASLLACGGKSSRTPRPAGKHRVVIPHLQCFKDEYERFSGTYVNNRIRTTKYTLLNFVPRNLFEQFHRAANLYFLFLVVLNWVPLVEAFQKEITMLPLVVVLTIIAIKDGLEDYRKYKIDKQINNLITKVYSRKEKKYIDCCWKNVTVGDFIRLSCNEIIPADMVLLFSTDPDGICHIETSGLDGESNLKQRQVVRGYTEQDSEVDPEKFSSRIECESPNNDLSRFRGFLEHANKERVGLSKENLLLRGCTIRNTEAVVGIVVYAGHETKAMLNNSGPRYKRSKLERRANTDVLWCVLLLIVMCLTGALGHGIWLSRYENMLFFNIPEPDGRVISPVLTGFYVFWTMIILLQVLIPISLYVSIEIVKLGQIYFIQSDVDFYNEKMDSTIQCRALNITEDLGQIQYLFSDKTGTLTENKMVFRRCSVAGFDYCHEENAKRLESYQEAVSEEEECTDTLGGSLSNMARPRAQGCRTVPSGPLGKPSAQLSGSTSAVGNGEGSGEVPHSRQAAFSSPMETDVVPDTRLLDKFSQLTPQLLTGLDGTAQSSPLETLYIMDFFIALAICNTVVVSAPNQPRQKIGLSSLGGMPIKSLEEIKNIFQKLSVRRSSSPSLASGKDSSSGTPCAFVSRISFFSRPKLSPPMEDESSQMDEIPQASNSACCTETEAQNRAVGLSVSSAEALSGPPPSASNLCYEAESPDEAALVYAARAYRCTLQSRTPEQVMVDFAALGSLTFQLLHILPFDSVRKRMSVVVRHPLSKQVVVYTKGADSVIMELLSVAASDGTNPEQQMIIRERTQRHLDEYAKRGLRTLCVAKKVMSDTEYAEWLRNHFLAETSIDNREELLVESAMRLENKLTLLGATGIEDRLQEGVPESIEALHQAGIKIWMLTGDKQETAVNIAYACKLLEPDDKLFILNTQSQDACGMLMSAILEELQKRAQVSPELASSRKNFPQPSDAQGQGRAGLVITGKTLEFALQESLQRQFLELTAWCQAVICCRATPLQKSEVVKLVRNHHHVLTLPIGDGANDVSMIQVADIGIGVSGQEGMQAVMASDFAISQFRHLSKLLLVHGHWCYTRLSNMILYFFYKNVAYVNLLFWYQFFCGFSGTSMTDYWVLIFFNLLFTSVPPIIYGVLEKDVSAETLLQLPELYRSGQRSEEYLPLTFWITLLDAFYQSLVCFFVPYFTYQGSDIDIFTFGNPLNTAALFIILLHLVIESKSLTWIHMLVTVGSILSYFFFALAFGALCVTCNPPSNPYGIMRKHMLDPVFYLVCVLTTFVALLPRFLYRVLQGSVFPSPVLRAKYFDRLPPEERAEALKRWRGTAKVNHVASKHASQSAAMSGRPTPGSSAVLAMKSATVSTVEQSTRETALDRGCSEPGASKMTGSSAS
UniProt ID: Q8K2X1
Variant: S -> L at position 716-716
Variant annotation: in strain: CAST, MAI, MBT and PWK
Protein function: Catalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of the plasma membrane.
Reference sequence:
MTELLQWARHHWRRLSHGRAQGEDERPYNYASLLACGGKSSRTPRPAGKHRVVIPHLQCFKDEYERFSGTYVNNRIRTTKYTLLNFVPRNLFEQFHRAANLYFLFLVVLNWVPLVEAFQKEITMLPLVVVLTIIAIKDGLEDYRKYKIDKQINNLITKVYSRKEKKYIDCCWKNVTVGDFIRLSCNEIIPADMVLLFSTDPDGICHIETSGLDGESNLKQRQVVRGYTEQDSEVDPEKFSSRIECESPNNDLSRFRGFLEHANKERVGLSKENLLLRGCTIRNTEAVVGIVVYAGHETKAMLNNSGPRYKRSKLERRANTDVLWCVLLLIVMCLTGALGHGIWLSRYENMLFFNIPEPDGRVISPVLTGFYVFWTMIILLQVLIPISLYVSIEIVKLGQIYFIQSDVDFYNEKMDSTIQCRALNITEDLGQIQYLFSDKTGTLTENKMVFRRCSVAGFDYCHEENAKRLESYQEAVSEEEECTDTLGGSLSNMARPRAQGCRTVPSGPLGKPSAQLSGSTSAVGNGEGSGEVPHSRQAAFSSPMETDVVPDTRLLDKFSQLTPQLLTGLDGTAQSSPLETLYIMDFFIALAICNTVVVSAPNQPRQKIGLSSLGGMPIKSLEEIKNIFQKLSVRRSSSPSLASGKDSSSGTPCAFVSRISFFSRPKLSPPMEDESSQMDEIPQASNSACCTETEAQNRAVGLSVSSAEALSGPPPSASNLCYEAESPDEAALVYAARAYRCTLQSRTPEQVMVDFAALGSLTFQLLHILPFDSVRKRMSVVVRHPLSKQVVVYTKGADSVIMELLSVAASDGTNPEQQMIIRERTQRHLDEYAKRGLRTLCVAKKVMSDTEYAEWLRNHFLAETSIDNREELLVESAMRLENKLTLLGATGIEDRLQEGVPESIEALHQAGIKIWMLTGDKQETAVNIAYACKLLEPDDKLFILNTQSQDACGMLMSAILEELQKRAQVSPELASSRKNFPQPSDAQGQGRAGLVITGKTLEFALQESLQRQFLELTAWCQAVICCRATPLQKSEVVKLVRNHHHVLTLPIGDGANDVSMIQVADIGIGVSGQEGMQAVMASDFAISQFRHLSKLLLVHGHWCYTRLSNMILYFFYKNVAYVNLLFWYQFFCGFSGTSMTDYWVLIFFNLLFTSVPPIIYGVLEKDVSAETLLQLPELYRSGQRSEEYLPLTFWITLLDAFYQSLVCFFVPYFTYQGSDIDIFTFGNPLNTAALFIILLHLVIESKSLTWIHMLVTVGSILSYFFFALAFGALCVTCNPPSNPYGIMRKHMLDPVFYLVCVLTTFVALLPRFLYRVLQGSVFPSPVLRAKYFDRLPPEERAEALKRWRGTAKVNHVASKHASQSAAMSGRPTPGSSAVLAMKSATVSTVEQSTRETALDRGCSEPGASKMTGSSAS
UniProt ID: Q8K2Z8
Variant: I -> T at position 235-235
Variant annotation: in strain: FVB/N
Protein function: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination.
Reference sequence:
MSVSGLKAELKFLASIFDKNHERFRIVSWKLDELHCQFLVPPPPPPPGSSLSPPPPLTLHCNITESYPSSSPIWFVDSDDPNLTSVLERLEDTKNNSSLRQQLKWLICDLCRLYNLPKHLDVEMLDQPLPTGQNGTTEEVTSEEEEEEEMAEDIEDLDHYEMKEEEPINGKKSEDEGIEKENLAILEKIRKTQRQDHLNGAVSGSVQASDRLMKELRDVYRSQSYKAGIYSVELINDSLYDWHVKLHKVDSDSPLHSDLQILKEKEGIEYILLNFSFKDNFPFDPPFVRVVLPVLSGGYVLGGGALCMELLTKQGWSSAYSIESVIMQINATLVKGKARVQFGANKNQYNLARAQQSYNSIVQIHEKNGWYTPPKEDG
UniProt ID: Q8K4Q9
Variant: R -> W at position 340-340
Variant annotation: in cataract
Protein function: Structural component of eye lens gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore.
Reference sequence:
MGDWSFLGNILEEVNEHSTVIGRVWLTVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPGCENVCYDEAFPISHIRLWVLQIIFVSTPSLMYVGHAVHHVRMEEKRKDREAEELCQQSRSNGGERVPIAPDQASIRKSSSSSKGTKKFRLEGTLLRTYVCHIIFKTLFEVGFIVGHYFLYGFRILPLYRCSRWPCPNVVDCFVSRPTEKTIFILFMLSVAFVSLFLNIMEMSHLGMKGIRSAFKRPAEQPLGEIAEKSLHSIAVSSIQKAKGYQLLEEEKIVSHYFPLTEVGMVETSPLSAKPFSQFEEKIGTGPLADMSRGYQETLPSYAQVGAQEVEREEQPVEEAVEPEVGEKKQEAEKVAPEGQETVAVPDGEKVETPGVGKDDEKEELQAEKVTKQGLSAEKAPTLCPELTTDDNRPLSRLSKASSRARSDDLTI
UniProt ID: Q8KLH5
Variant: GV -> VA at position 11-12
Variant annotation: in strain: CE3
Protein function: C-type cytochrome. Part of the cbb3-type cytochrome c oxidase complex. FixP subunit is required for transferring electrons from donor cytochrome c via its heme groups to FixO subunit. From there, electrons are shuttled to the catalytic binuclear center of FixN subunit where oxygen reduction takes place. The complex also functions as a proton pump.
Reference sequence:
MSQKHIDELSGVETTGHEWDGIQELNNPMPRWWIWTFYVTILWAIGYAIAYPAIPMITSATNGYLGYSTRAELQQDLNLAKSSQTEFHDLIAAKTVEEIDADPALRKFAIAGGASAFKVNCAPCHGSGASGGPGFPNLNDDDWLWGGDLNAIQATISHGIRFDGDTDSHSSEMPPFAGVLEPIQMKQVAAFVWGLTNTPSDVGLAAAGKQVFFDNCAPCHGEDAKGKVEMGAPDLADAIWLKSRGEDAILRQVASPKHGVMPAWAARLGDTTVNELTIFVHALGGGT
UniProt ID: Q8KLH5
Variant: W -> C at position 43-43
Variant annotation: in strain: CE3
Protein function: C-type cytochrome. Part of the cbb3-type cytochrome c oxidase complex. FixP subunit is required for transferring electrons from donor cytochrome c via its heme groups to FixO subunit. From there, electrons are shuttled to the catalytic binuclear center of FixN subunit where oxygen reduction takes place. The complex also functions as a proton pump.
Reference sequence:
MSQKHIDELSGVETTGHEWDGIQELNNPMPRWWIWTFYVTILWAIGYAIAYPAIPMITSATNGYLGYSTRAELQQDLNLAKSSQTEFHDLIAAKTVEEIDADPALRKFAIAGGASAFKVNCAPCHGSGASGGPGFPNLNDDDWLWGGDLNAIQATISHGIRFDGDTDSHSSEMPPFAGVLEPIQMKQVAAFVWGLTNTPSDVGLAAAGKQVFFDNCAPCHGEDAKGKVEMGAPDLADAIWLKSRGEDAILRQVASPKHGVMPAWAARLGDTTVNELTIFVHALGGGT
UniProt ID: Q8KLH5
Variant: IG -> DP at position 45-46
Variant annotation: in strain: CE3
Protein function: C-type cytochrome. Part of the cbb3-type cytochrome c oxidase complex. FixP subunit is required for transferring electrons from donor cytochrome c via its heme groups to FixO subunit. From there, electrons are shuttled to the catalytic binuclear center of FixN subunit where oxygen reduction takes place. The complex also functions as a proton pump.
Reference sequence:
MSQKHIDELSGVETTGHEWDGIQELNNPMPRWWIWTFYVTILWAIGYAIAYPAIPMITSATNGYLGYSTRAELQQDLNLAKSSQTEFHDLIAAKTVEEIDADPALRKFAIAGGASAFKVNCAPCHGSGASGGPGFPNLNDDDWLWGGDLNAIQATISHGIRFDGDTDSHSSEMPPFAGVLEPIQMKQVAAFVWGLTNTPSDVGLAAAGKQVFFDNCAPCHGEDAKGKVEMGAPDLADAIWLKSRGEDAILRQVASPKHGVMPAWAARLGDTTVNELTIFVHALGGGT
UniProt ID: Q8KLH5
Variant: DA -> EP at position 247-248
Variant annotation: in strain: CE3
Protein function: C-type cytochrome. Part of the cbb3-type cytochrome c oxidase complex. FixP subunit is required for transferring electrons from donor cytochrome c via its heme groups to FixO subunit. From there, electrons are shuttled to the catalytic binuclear center of FixN subunit where oxygen reduction takes place. The complex also functions as a proton pump.
Reference sequence:
MSQKHIDELSGVETTGHEWDGIQELNNPMPRWWIWTFYVTILWAIGYAIAYPAIPMITSATNGYLGYSTRAELQQDLNLAKSSQTEFHDLIAAKTVEEIDADPALRKFAIAGGASAFKVNCAPCHGSGASGGPGFPNLNDDDWLWGGDLNAIQATISHGIRFDGDTDSHSSEMPPFAGVLEPIQMKQVAAFVWGLTNTPSDVGLAAAGKQVFFDNCAPCHGEDAKGKVEMGAPDLADAIWLKSRGEDAILRQVASPKHGVMPAWAARLGDTTVNELTIFVHALGGGT
UniProt ID: Q8KLH5
Variant: I -> N at position 278-278
Variant annotation: in strain: CE3
Protein function: C-type cytochrome. Part of the cbb3-type cytochrome c oxidase complex. FixP subunit is required for transferring electrons from donor cytochrome c via its heme groups to FixO subunit. From there, electrons are shuttled to the catalytic binuclear center of FixN subunit where oxygen reduction takes place. The complex also functions as a proton pump.
Reference sequence:
MSQKHIDELSGVETTGHEWDGIQELNNPMPRWWIWTFYVTILWAIGYAIAYPAIPMITSATNGYLGYSTRAELQQDLNLAKSSQTEFHDLIAAKTVEEIDADPALRKFAIAGGASAFKVNCAPCHGSGASGGPGFPNLNDDDWLWGGDLNAIQATISHGIRFDGDTDSHSSEMPPFAGVLEPIQMKQVAAFVWGLTNTPSDVGLAAAGKQVFFDNCAPCHGEDAKGKVEMGAPDLADAIWLKSRGEDAILRQVASPKHGVMPAWAARLGDTTVNELTIFVHALGGGT
UniProt ID: Q8KLH5
Variant: AL -> RF at position 282-283
Variant annotation: in strain: CE3
Protein function: C-type cytochrome. Part of the cbb3-type cytochrome c oxidase complex. FixP subunit is required for transferring electrons from donor cytochrome c via its heme groups to FixO subunit. From there, electrons are shuttled to the catalytic binuclear center of FixN subunit where oxygen reduction takes place. The complex also functions as a proton pump.
Reference sequence:
MSQKHIDELSGVETTGHEWDGIQELNNPMPRWWIWTFYVTILWAIGYAIAYPAIPMITSATNGYLGYSTRAELQQDLNLAKSSQTEFHDLIAAKTVEEIDADPALRKFAIAGGASAFKVNCAPCHGSGASGGPGFPNLNDDDWLWGGDLNAIQATISHGIRFDGDTDSHSSEMPPFAGVLEPIQMKQVAAFVWGLTNTPSDVGLAAAGKQVFFDNCAPCHGEDAKGKVEMGAPDLADAIWLKSRGEDAILRQVASPKHGVMPAWAARLGDTTVNELTIFVHALGGGT
UniProt ID: Q8L3R3
Variant: E -> V at position 14-14
Variant annotation: in strain: cv. Cvi-0, cv. Kas-0, cv. Landsberg erecta and cv. Mt-0
Protein function: Disease resistance (R) protein.
Reference sequence:
MGGCVSVSLSCDREVNQFSQWLCVSGSYIQNLSENLASLQKAMGVLNAKRDDVQGRINREEFTGHRRRLAQVQVWLTRIQTIENQFNDLLSTCNAEIQRLCLCGFCSKNVKMSYLYGKRVIVLLREVEGLSSQGVFDIVTEAAPIAEVEELPIQSTIVGQDSMLDKVWNCLMEDKVWIVGLYGMGGVGKTTLLTQINNKFSKLGGGFDVVIWVVVSKNATVHKIQKSIGEKLGLVGKNWDEKNKNQRALDIHNVLRRKKFVLLLDDIWEKVELKVIGVPYPSGENGCKVAFTTHSKEVCGRMGVDNPMEISCLDTGNAWDLLKKKVGENTLGSHPDIPQLARKVSEKCCGLPLALNVIGETMSFKRTIQEWRHATEVLTSATDFSGMEDEILPILKYSYDSLNGEDAKSCFLYCSLFPEDFEIRKEMLIEYWICEGFIKEKQGREKAFNQGYDILGTLVRSSLLLEGAKDKDVVSMHDMVREMALWIFSDLGKHKERCIVQAGIGLDELPEVENWRAVKRMSLMNNNFEKILGSPECVELITLFLQNNYKLVDISMEFFRCMPSLAVLDLSENHSLSELPEEISELVSLQYLDLSGTYIERLPHGLHELRKLVHLKLERTRRLESISGISYLSSLRTLRLRDSKTTLDTGLMKELQLLEHLELITTDISSGLVGELFCYPRVGRCIQHIYIRDHWERPEESVGVLVLPAIHNLCYISIWNCWMWEIMIEKTPWKKNLTNPNFSNLSNVRIEGCDGLKDLTWLLFAPNLINLRVWGCKHLEDIISKEKAASVLEKEILPFQKLECLNLYQLSELKSIYWNALPFQRLRCLDILNNCPKLRKLPLDSKSVVKVEEFVIKYKEKKWIERVEWEDEATQYRFLPTCRLR
UniProt ID: Q8L3R3
Variant: N -> K at position 47-47
Variant annotation: in strain: cv. Ang-0, cv. Bla-1, cv. Bur-0, cv. Ct-1, cv. Cvi-0, cv. Kas-0, cv. Landsberg erecta, cv. Mt-0, cv. Pog-0, cv. Tamm-17, cv. Tsu-0, cv. Wu-0
Protein function: Disease resistance (R) protein.
Reference sequence:
MGGCVSVSLSCDREVNQFSQWLCVSGSYIQNLSENLASLQKAMGVLNAKRDDVQGRINREEFTGHRRRLAQVQVWLTRIQTIENQFNDLLSTCNAEIQRLCLCGFCSKNVKMSYLYGKRVIVLLREVEGLSSQGVFDIVTEAAPIAEVEELPIQSTIVGQDSMLDKVWNCLMEDKVWIVGLYGMGGVGKTTLLTQINNKFSKLGGGFDVVIWVVVSKNATVHKIQKSIGEKLGLVGKNWDEKNKNQRALDIHNVLRRKKFVLLLDDIWEKVELKVIGVPYPSGENGCKVAFTTHSKEVCGRMGVDNPMEISCLDTGNAWDLLKKKVGENTLGSHPDIPQLARKVSEKCCGLPLALNVIGETMSFKRTIQEWRHATEVLTSATDFSGMEDEILPILKYSYDSLNGEDAKSCFLYCSLFPEDFEIRKEMLIEYWICEGFIKEKQGREKAFNQGYDILGTLVRSSLLLEGAKDKDVVSMHDMVREMALWIFSDLGKHKERCIVQAGIGLDELPEVENWRAVKRMSLMNNNFEKILGSPECVELITLFLQNNYKLVDISMEFFRCMPSLAVLDLSENHSLSELPEEISELVSLQYLDLSGTYIERLPHGLHELRKLVHLKLERTRRLESISGISYLSSLRTLRLRDSKTTLDTGLMKELQLLEHLELITTDISSGLVGELFCYPRVGRCIQHIYIRDHWERPEESVGVLVLPAIHNLCYISIWNCWMWEIMIEKTPWKKNLTNPNFSNLSNVRIEGCDGLKDLTWLLFAPNLINLRVWGCKHLEDIISKEKAASVLEKEILPFQKLECLNLYQLSELKSIYWNALPFQRLRCLDILNNCPKLRKLPLDSKSVVKVEEFVIKYKEKKWIERVEWEDEATQYRFLPTCRLR
UniProt ID: Q8L3R3
Variant: I -> V at position 57-57
Variant annotation: in strain: cv. Bur-0
Protein function: Disease resistance (R) protein.
Reference sequence:
MGGCVSVSLSCDREVNQFSQWLCVSGSYIQNLSENLASLQKAMGVLNAKRDDVQGRINREEFTGHRRRLAQVQVWLTRIQTIENQFNDLLSTCNAEIQRLCLCGFCSKNVKMSYLYGKRVIVLLREVEGLSSQGVFDIVTEAAPIAEVEELPIQSTIVGQDSMLDKVWNCLMEDKVWIVGLYGMGGVGKTTLLTQINNKFSKLGGGFDVVIWVVVSKNATVHKIQKSIGEKLGLVGKNWDEKNKNQRALDIHNVLRRKKFVLLLDDIWEKVELKVIGVPYPSGENGCKVAFTTHSKEVCGRMGVDNPMEISCLDTGNAWDLLKKKVGENTLGSHPDIPQLARKVSEKCCGLPLALNVIGETMSFKRTIQEWRHATEVLTSATDFSGMEDEILPILKYSYDSLNGEDAKSCFLYCSLFPEDFEIRKEMLIEYWICEGFIKEKQGREKAFNQGYDILGTLVRSSLLLEGAKDKDVVSMHDMVREMALWIFSDLGKHKERCIVQAGIGLDELPEVENWRAVKRMSLMNNNFEKILGSPECVELITLFLQNNYKLVDISMEFFRCMPSLAVLDLSENHSLSELPEEISELVSLQYLDLSGTYIERLPHGLHELRKLVHLKLERTRRLESISGISYLSSLRTLRLRDSKTTLDTGLMKELQLLEHLELITTDISSGLVGELFCYPRVGRCIQHIYIRDHWERPEESVGVLVLPAIHNLCYISIWNCWMWEIMIEKTPWKKNLTNPNFSNLSNVRIEGCDGLKDLTWLLFAPNLINLRVWGCKHLEDIISKEKAASVLEKEILPFQKLECLNLYQLSELKSIYWNALPFQRLRCLDILNNCPKLRKLPLDSKSVVKVEEFVIKYKEKKWIERVEWEDEATQYRFLPTCRLR
UniProt ID: Q8L3R3
Variant: S -> I at position 91-91
Variant annotation: in strain: cv. Cvi-0, cv. Kas-0, cv. Landsberg erecta and cv. Mt-0
Protein function: Disease resistance (R) protein.
Reference sequence:
MGGCVSVSLSCDREVNQFSQWLCVSGSYIQNLSENLASLQKAMGVLNAKRDDVQGRINREEFTGHRRRLAQVQVWLTRIQTIENQFNDLLSTCNAEIQRLCLCGFCSKNVKMSYLYGKRVIVLLREVEGLSSQGVFDIVTEAAPIAEVEELPIQSTIVGQDSMLDKVWNCLMEDKVWIVGLYGMGGVGKTTLLTQINNKFSKLGGGFDVVIWVVVSKNATVHKIQKSIGEKLGLVGKNWDEKNKNQRALDIHNVLRRKKFVLLLDDIWEKVELKVIGVPYPSGENGCKVAFTTHSKEVCGRMGVDNPMEISCLDTGNAWDLLKKKVGENTLGSHPDIPQLARKVSEKCCGLPLALNVIGETMSFKRTIQEWRHATEVLTSATDFSGMEDEILPILKYSYDSLNGEDAKSCFLYCSLFPEDFEIRKEMLIEYWICEGFIKEKQGREKAFNQGYDILGTLVRSSLLLEGAKDKDVVSMHDMVREMALWIFSDLGKHKERCIVQAGIGLDELPEVENWRAVKRMSLMNNNFEKILGSPECVELITLFLQNNYKLVDISMEFFRCMPSLAVLDLSENHSLSELPEEISELVSLQYLDLSGTYIERLPHGLHELRKLVHLKLERTRRLESISGISYLSSLRTLRLRDSKTTLDTGLMKELQLLEHLELITTDISSGLVGELFCYPRVGRCIQHIYIRDHWERPEESVGVLVLPAIHNLCYISIWNCWMWEIMIEKTPWKKNLTNPNFSNLSNVRIEGCDGLKDLTWLLFAPNLINLRVWGCKHLEDIISKEKAASVLEKEILPFQKLECLNLYQLSELKSIYWNALPFQRLRCLDILNNCPKLRKLPLDSKSVVKVEEFVIKYKEKKWIERVEWEDEATQYRFLPTCRLR
UniProt ID: Q8L3R3
Variant: N -> H at position 94-94
Variant annotation: in strain: cv. Cvi-0, cv. Kas-0, cv. Landsberg erecta and cv. Mt-0
Protein function: Disease resistance (R) protein.
Reference sequence:
MGGCVSVSLSCDREVNQFSQWLCVSGSYIQNLSENLASLQKAMGVLNAKRDDVQGRINREEFTGHRRRLAQVQVWLTRIQTIENQFNDLLSTCNAEIQRLCLCGFCSKNVKMSYLYGKRVIVLLREVEGLSSQGVFDIVTEAAPIAEVEELPIQSTIVGQDSMLDKVWNCLMEDKVWIVGLYGMGGVGKTTLLTQINNKFSKLGGGFDVVIWVVVSKNATVHKIQKSIGEKLGLVGKNWDEKNKNQRALDIHNVLRRKKFVLLLDDIWEKVELKVIGVPYPSGENGCKVAFTTHSKEVCGRMGVDNPMEISCLDTGNAWDLLKKKVGENTLGSHPDIPQLARKVSEKCCGLPLALNVIGETMSFKRTIQEWRHATEVLTSATDFSGMEDEILPILKYSYDSLNGEDAKSCFLYCSLFPEDFEIRKEMLIEYWICEGFIKEKQGREKAFNQGYDILGTLVRSSLLLEGAKDKDVVSMHDMVREMALWIFSDLGKHKERCIVQAGIGLDELPEVENWRAVKRMSLMNNNFEKILGSPECVELITLFLQNNYKLVDISMEFFRCMPSLAVLDLSENHSLSELPEEISELVSLQYLDLSGTYIERLPHGLHELRKLVHLKLERTRRLESISGISYLSSLRTLRLRDSKTTLDTGLMKELQLLEHLELITTDISSGLVGELFCYPRVGRCIQHIYIRDHWERPEESVGVLVLPAIHNLCYISIWNCWMWEIMIEKTPWKKNLTNPNFSNLSNVRIEGCDGLKDLTWLLFAPNLINLRVWGCKHLEDIISKEKAASVLEKEILPFQKLECLNLYQLSELKSIYWNALPFQRLRCLDILNNCPKLRKLPLDSKSVVKVEEFVIKYKEKKWIERVEWEDEATQYRFLPTCRLR