sujigwak/NVAR huggingface dataset:
UniProt ID: Q01118
Variant: R -> K at position 1516-1516
Variant annotation: in dbSNP:rs34799257
Protein function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.
Reference sequence:
MLASPEPKGLVPFTKESFELIKQHIAKTHNEDHEEEDLKPTPDLEVGKKLPFIYGNLSQGMVSEPLEDVDPYYYKKKNTFIVLNKNRTIFRFNAASILCTLSPFNCIRRTTIKVLVHPFFQLFILISVLIDCVFMSLTNLPKWRPVLENTLLGIYTFEILVKLFARGVWAGSFSFLGDPWNWLDFSVTVFEVIIRYSPLDFIPTLQTARTLRILKIIPLNQGLKSLVGVLIHCLKQLIGVIILTLFFLSIFSLIGMGLFMGNLKHKCFRWPQENENETLHNRTGNPYYIRETENFYYLEGERYALLCGNRTDAGQCPEGYVCVKAGINPDQGFTNFDSFGWALFALFRLMAQDYPEVLYHQILYASGKVYMIFFVVVSFLFSFYMASLFLGILAMAYEEEKQRVGEISKKIEPKFQQTGKELQEGNETDEAKTIQIEMKKRSPISTDTSLDVLEDATLRHKEELEKSKKICPLYWYKFAKTFLIWNCSPCWLKLKEFVHRIIMAPFTDLFLIICIILNVCFLTLEHYPMSKQTNTLLNIGNLVFIGIFTAEMIFKIIAMHPYGYFQVGWNIFDSMIVFHGLIELCLANVAGMALLRLFRMLRIFKLGKYWPTFQILMWSLSNSWVALKDLVLLLFTFIFFSAAFGMKLFGKNYEEFVCHIDKDCQLPRWHMHDFFHSFLNVFRILCGEWVETLWDCMEVAGQSWCIPFYLMVILIGNLLVLYLFLALVSSFSSCKDVTAEENNEAKNLQLAVARIKKGINYVLLKILCKTQNVPKDTMDHVNEVYVKEDISDHTLSELSNTQDFLKDKEKSSGTEKNATENESQSLIPSPSVSETVPIASGESDIENLDNKEIQSKSGDGGSKEKIKQSSSSECSTVDIAISEEEEMFYGGERSKHLKNGCRRGSSLGQISGASKKGKIWQNIRKTCCKIVENNWFKCFIGLVTLLSTGTLAFEDIYMDQRKTIKILLEYADMIFTYIFILEMLLKWMAYGFKAYFSNGWYRLDFVVVIVFCLSLIGKTREELKPLISMKFLRPLRVLSQFERMKVVVRALIKTTLPTLNVFLVCLMIWLIFSIMGVDLFAGRFYECIDPTSGERFPSSEVMNKSRCESLLFNESMLWENAKMNFDNVGNGFLSLLQVATFNGWITIMNSAIDSVAVNIQPHFEVNIYMYCYFINFIIFGVFLPLSMLITVIIDNFNKHKIKLGGSNIFITVKQRKQYRRLKKLMYEDSQRPVPRPLNKLQGFIFDVVTSQAFNVIVMVLICFQAIAMMIDTDVQSLQMSIALYWINSIFVMLYTMECILKLIAFRCFYFTIAWNIFDFMVVIFSITGLCLPMTVGSYLVPPSLVQLILLSRIIHMLRLGKGPKVFHNLMLPLMLSLPALLNIILLIFLVMFIYAVFGMYNFAYVKKEAGINDVSNFETFGNSMLCLFQVAIFAGWDGMLDAIFNSKWSDCDPDKINPGTQVRGDCGNPSVGIFYFVSYILISWLIIVNMYIVVVMEFLNIASKKKNKTLSEDDFRKFFQVWKRFDPDRTQYIDSSKLSDFAAALDPPLFMAKPNKGQLIALDLPMAVGDRIHCLDILLAFTKRVMGQDVRMEKVVSEIESGFLLANPFKITCEPITTTLKRKQEAVSATIIQRAYKNYRLRRNDKNTSDIHMIDGDRDVHATKEGAYFDKAKEKSPIQSQI
UniProt ID: Q01118
Variant: V -> L at position 1596-1596
Variant annotation: in dbSNP:rs3791251
Protein function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.
Reference sequence:
MLASPEPKGLVPFTKESFELIKQHIAKTHNEDHEEEDLKPTPDLEVGKKLPFIYGNLSQGMVSEPLEDVDPYYYKKKNTFIVLNKNRTIFRFNAASILCTLSPFNCIRRTTIKVLVHPFFQLFILISVLIDCVFMSLTNLPKWRPVLENTLLGIYTFEILVKLFARGVWAGSFSFLGDPWNWLDFSVTVFEVIIRYSPLDFIPTLQTARTLRILKIIPLNQGLKSLVGVLIHCLKQLIGVIILTLFFLSIFSLIGMGLFMGNLKHKCFRWPQENENETLHNRTGNPYYIRETENFYYLEGERYALLCGNRTDAGQCPEGYVCVKAGINPDQGFTNFDSFGWALFALFRLMAQDYPEVLYHQILYASGKVYMIFFVVVSFLFSFYMASLFLGILAMAYEEEKQRVGEISKKIEPKFQQTGKELQEGNETDEAKTIQIEMKKRSPISTDTSLDVLEDATLRHKEELEKSKKICPLYWYKFAKTFLIWNCSPCWLKLKEFVHRIIMAPFTDLFLIICIILNVCFLTLEHYPMSKQTNTLLNIGNLVFIGIFTAEMIFKIIAMHPYGYFQVGWNIFDSMIVFHGLIELCLANVAGMALLRLFRMLRIFKLGKYWPTFQILMWSLSNSWVALKDLVLLLFTFIFFSAAFGMKLFGKNYEEFVCHIDKDCQLPRWHMHDFFHSFLNVFRILCGEWVETLWDCMEVAGQSWCIPFYLMVILIGNLLVLYLFLALVSSFSSCKDVTAEENNEAKNLQLAVARIKKGINYVLLKILCKTQNVPKDTMDHVNEVYVKEDISDHTLSELSNTQDFLKDKEKSSGTEKNATENESQSLIPSPSVSETVPIASGESDIENLDNKEIQSKSGDGGSKEKIKQSSSSECSTVDIAISEEEEMFYGGERSKHLKNGCRRGSSLGQISGASKKGKIWQNIRKTCCKIVENNWFKCFIGLVTLLSTGTLAFEDIYMDQRKTIKILLEYADMIFTYIFILEMLLKWMAYGFKAYFSNGWYRLDFVVVIVFCLSLIGKTREELKPLISMKFLRPLRVLSQFERMKVVVRALIKTTLPTLNVFLVCLMIWLIFSIMGVDLFAGRFYECIDPTSGERFPSSEVMNKSRCESLLFNESMLWENAKMNFDNVGNGFLSLLQVATFNGWITIMNSAIDSVAVNIQPHFEVNIYMYCYFINFIIFGVFLPLSMLITVIIDNFNKHKIKLGGSNIFITVKQRKQYRRLKKLMYEDSQRPVPRPLNKLQGFIFDVVTSQAFNVIVMVLICFQAIAMMIDTDVQSLQMSIALYWINSIFVMLYTMECILKLIAFRCFYFTIAWNIFDFMVVIFSITGLCLPMTVGSYLVPPSLVQLILLSRIIHMLRLGKGPKVFHNLMLPLMLSLPALLNIILLIFLVMFIYAVFGMYNFAYVKKEAGINDVSNFETFGNSMLCLFQVAIFAGWDGMLDAIFNSKWSDCDPDKINPGTQVRGDCGNPSVGIFYFVSYILISWLIIVNMYIVVVMEFLNIASKKKNKTLSEDDFRKFFQVWKRFDPDRTQYIDSSKLSDFAAALDPPLFMAKPNKGQLIALDLPMAVGDRIHCLDILLAFTKRVMGQDVRMEKVVSEIESGFLLANPFKITCEPITTTLKRKQEAVSATIIQRAYKNYRLRRNDKNTSDIHMIDGDRDVHATKEGAYFDKAKEKSPIQSQI
UniProt ID: Q01118
Variant: D -> G at position 1657-1657
Variant annotation: in dbSNP:rs35344714
Protein function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.
Reference sequence:
MLASPEPKGLVPFTKESFELIKQHIAKTHNEDHEEEDLKPTPDLEVGKKLPFIYGNLSQGMVSEPLEDVDPYYYKKKNTFIVLNKNRTIFRFNAASILCTLSPFNCIRRTTIKVLVHPFFQLFILISVLIDCVFMSLTNLPKWRPVLENTLLGIYTFEILVKLFARGVWAGSFSFLGDPWNWLDFSVTVFEVIIRYSPLDFIPTLQTARTLRILKIIPLNQGLKSLVGVLIHCLKQLIGVIILTLFFLSIFSLIGMGLFMGNLKHKCFRWPQENENETLHNRTGNPYYIRETENFYYLEGERYALLCGNRTDAGQCPEGYVCVKAGINPDQGFTNFDSFGWALFALFRLMAQDYPEVLYHQILYASGKVYMIFFVVVSFLFSFYMASLFLGILAMAYEEEKQRVGEISKKIEPKFQQTGKELQEGNETDEAKTIQIEMKKRSPISTDTSLDVLEDATLRHKEELEKSKKICPLYWYKFAKTFLIWNCSPCWLKLKEFVHRIIMAPFTDLFLIICIILNVCFLTLEHYPMSKQTNTLLNIGNLVFIGIFTAEMIFKIIAMHPYGYFQVGWNIFDSMIVFHGLIELCLANVAGMALLRLFRMLRIFKLGKYWPTFQILMWSLSNSWVALKDLVLLLFTFIFFSAAFGMKLFGKNYEEFVCHIDKDCQLPRWHMHDFFHSFLNVFRILCGEWVETLWDCMEVAGQSWCIPFYLMVILIGNLLVLYLFLALVSSFSSCKDVTAEENNEAKNLQLAVARIKKGINYVLLKILCKTQNVPKDTMDHVNEVYVKEDISDHTLSELSNTQDFLKDKEKSSGTEKNATENESQSLIPSPSVSETVPIASGESDIENLDNKEIQSKSGDGGSKEKIKQSSSSECSTVDIAISEEEEMFYGGERSKHLKNGCRRGSSLGQISGASKKGKIWQNIRKTCCKIVENNWFKCFIGLVTLLSTGTLAFEDIYMDQRKTIKILLEYADMIFTYIFILEMLLKWMAYGFKAYFSNGWYRLDFVVVIVFCLSLIGKTREELKPLISMKFLRPLRVLSQFERMKVVVRALIKTTLPTLNVFLVCLMIWLIFSIMGVDLFAGRFYECIDPTSGERFPSSEVMNKSRCESLLFNESMLWENAKMNFDNVGNGFLSLLQVATFNGWITIMNSAIDSVAVNIQPHFEVNIYMYCYFINFIIFGVFLPLSMLITVIIDNFNKHKIKLGGSNIFITVKQRKQYRRLKKLMYEDSQRPVPRPLNKLQGFIFDVVTSQAFNVIVMVLICFQAIAMMIDTDVQSLQMSIALYWINSIFVMLYTMECILKLIAFRCFYFTIAWNIFDFMVVIFSITGLCLPMTVGSYLVPPSLVQLILLSRIIHMLRLGKGPKVFHNLMLPLMLSLPALLNIILLIFLVMFIYAVFGMYNFAYVKKEAGINDVSNFETFGNSMLCLFQVAIFAGWDGMLDAIFNSKWSDCDPDKINPGTQVRGDCGNPSVGIFYFVSYILISWLIIVNMYIVVVMEFLNIASKKKNKTLSEDDFRKFFQVWKRFDPDRTQYIDSSKLSDFAAALDPPLFMAKPNKGQLIALDLPMAVGDRIHCLDILLAFTKRVMGQDVRMEKVVSEIESGFLLANPFKITCEPITTTLKRKQEAVSATIIQRAYKNYRLRRNDKNTSDIHMIDGDRDVHATKEGAYFDKAKEKSPIQSQI
UniProt ID: Q01151
Variant: R -> Q at position 182-182
Variant annotation: in dbSNP:rs2230193
Protein function: May play a significant role in antigen presentation or the cellular interactions that follow lymphocyte activation.
Reference sequence:
MSRGLQLLLLSCAYSLAPATPEVKVACSEDVDLPCTAPWDPQVPYTVSWVKLLEGGEERMETPQEDHLRGQHYHQKGQNGSFDAPNERPYSLKIRNTTSCNSGTYRCTLQDPDGQRNLSGKVILRVTGCPAQRKEETFKKYRAEIVLLLALVIFYLTLIIFTCKFARLQSIFPDFSKAGMERAFLPVTSPNKHLGLVTPHKTELV
UniProt ID: Q01172
Variant: E -> K at position 32-32
Variant annotation: in strain: 4M-147
Protein function: Pectinolytic enzymes consist of four classes of enzymes: pectin lyase, polygalacturonase, pectin methylesterase and rhamnogalacturonase. Among pectinolytic enzymes, pectin lyase is the most important in depolymerization of pectin, since it cleaves internal glycosidic bonds of highly methylated pectins.
Reference sequence:
MKYSTIFSAAAAVFAGSAAAVGVSGSAEGFAEGVTGGGDATPVYPDTIDELVSYLGDDEARVIVLTKTFDFTDSEGTTTGTGCAPWGTASACQVAIDQDDWCENYEPDAPSVSVEYYNAGVLGITVTSNKSLIGEGSSGAIKGKGLRIVSGAENIIIQNIAVTDINPKYVWGGDAITLDDCDLVWIDHVTTARIGRQHYVLGTSADNRVSLTNNYIDGVSDYSATCDGYHYWGIYLDGDADLVTMKGNYIYHTSGRSPKVQDNTLLHCVNNYFYDISGHAFEIGEGGYVLAEGNVFQNVDTVLETYEGAAFTVPSTTAGEVCSTYLGRDCVINGFGCSGTFSEDSTSFLSDFEGKNIASASAYTSVASRVVANAGQGNL
UniProt ID: Q01172
Variant: D -> S at position 39-39
Variant annotation: in strain: 4M-147
Protein function: Pectinolytic enzymes consist of four classes of enzymes: pectin lyase, polygalacturonase, pectin methylesterase and rhamnogalacturonase. Among pectinolytic enzymes, pectin lyase is the most important in depolymerization of pectin, since it cleaves internal glycosidic bonds of highly methylated pectins.
Reference sequence:
MKYSTIFSAAAAVFAGSAAAVGVSGSAEGFAEGVTGGGDATPVYPDTIDELVSYLGDDEARVIVLTKTFDFTDSEGTTTGTGCAPWGTASACQVAIDQDDWCENYEPDAPSVSVEYYNAGVLGITVTSNKSLIGEGSSGAIKGKGLRIVSGAENIIIQNIAVTDINPKYVWGGDAITLDDCDLVWIDHVTTARIGRQHYVLGTSADNRVSLTNNYIDGVSDYSATCDGYHYWGIYLDGDADLVTMKGNYIYHTSGRSPKVQDNTLLHCVNNYFYDISGHAFEIGEGGYVLAEGNVFQNVDTVLETYEGAAFTVPSTTAGEVCSTYLGRDCVINGFGCSGTFSEDSTSFLSDFEGKNIASASAYTSVASRVVANAGQGNL
UniProt ID: Q01172
Variant: V -> T at position 121-121
Variant annotation: in strain: 4M-147
Protein function: Pectinolytic enzymes consist of four classes of enzymes: pectin lyase, polygalacturonase, pectin methylesterase and rhamnogalacturonase. Among pectinolytic enzymes, pectin lyase is the most important in depolymerization of pectin, since it cleaves internal glycosidic bonds of highly methylated pectins.
Reference sequence:
MKYSTIFSAAAAVFAGSAAAVGVSGSAEGFAEGVTGGGDATPVYPDTIDELVSYLGDDEARVIVLTKTFDFTDSEGTTTGTGCAPWGTASACQVAIDQDDWCENYEPDAPSVSVEYYNAGVLGITVTSNKSLIGEGSSGAIKGKGLRIVSGAENIIIQNIAVTDINPKYVWGGDAITLDDCDLVWIDHVTTARIGRQHYVLGTSADNRVSLTNNYIDGVSDYSATCDGYHYWGIYLDGDADLVTMKGNYIYHTSGRSPKVQDNTLLHCVNNYFYDISGHAFEIGEGGYVLAEGNVFQNVDTVLETYEGAAFTVPSTTAGEVCSTYLGRDCVINGFGCSGTFSEDSTSFLSDFEGKNIASASAYTSVASRVVANAGQGNL
UniProt ID: Q01172
Variant: G -> A at position 233-233
Variant annotation: in strain: 4M-147
Protein function: Pectinolytic enzymes consist of four classes of enzymes: pectin lyase, polygalacturonase, pectin methylesterase and rhamnogalacturonase. Among pectinolytic enzymes, pectin lyase is the most important in depolymerization of pectin, since it cleaves internal glycosidic bonds of highly methylated pectins.
Reference sequence:
MKYSTIFSAAAAVFAGSAAAVGVSGSAEGFAEGVTGGGDATPVYPDTIDELVSYLGDDEARVIVLTKTFDFTDSEGTTTGTGCAPWGTASACQVAIDQDDWCENYEPDAPSVSVEYYNAGVLGITVTSNKSLIGEGSSGAIKGKGLRIVSGAENIIIQNIAVTDINPKYVWGGDAITLDDCDLVWIDHVTTARIGRQHYVLGTSADNRVSLTNNYIDGVSDYSATCDGYHYWGIYLDGDADLVTMKGNYIYHTSGRSPKVQDNTLLHCVNNYFYDISGHAFEIGEGGYVLAEGNVFQNVDTVLETYEGAAFTVPSTTAGEVCSTYLGRDCVINGFGCSGTFSEDSTSFLSDFEGKNIASASAYTSVASRVVANAGQGNL
UniProt ID: Q01172
Variant: C -> A at position 268-268
Variant annotation: in strain: 4M-147
Protein function: Pectinolytic enzymes consist of four classes of enzymes: pectin lyase, polygalacturonase, pectin methylesterase and rhamnogalacturonase. Among pectinolytic enzymes, pectin lyase is the most important in depolymerization of pectin, since it cleaves internal glycosidic bonds of highly methylated pectins.
Reference sequence:
MKYSTIFSAAAAVFAGSAAAVGVSGSAEGFAEGVTGGGDATPVYPDTIDELVSYLGDDEARVIVLTKTFDFTDSEGTTTGTGCAPWGTASACQVAIDQDDWCENYEPDAPSVSVEYYNAGVLGITVTSNKSLIGEGSSGAIKGKGLRIVSGAENIIIQNIAVTDINPKYVWGGDAITLDDCDLVWIDHVTTARIGRQHYVLGTSADNRVSLTNNYIDGVSDYSATCDGYHYWGIYLDGDADLVTMKGNYIYHTSGRSPKVQDNTLLHCVNNYFYDISGHAFEIGEGGYVLAEGNVFQNVDTVLETYEGAAFTVPSTTAGEVCSTYLGRDCVINGFGCSGTFSEDSTSFLSDFEGKNIASASAYTSVASRVVANAGQGNL
UniProt ID: Q01172
Variant: F -> W at position 273-273
Variant annotation: in strain: 4M-147
Protein function: Pectinolytic enzymes consist of four classes of enzymes: pectin lyase, polygalacturonase, pectin methylesterase and rhamnogalacturonase. Among pectinolytic enzymes, pectin lyase is the most important in depolymerization of pectin, since it cleaves internal glycosidic bonds of highly methylated pectins.
Reference sequence:
MKYSTIFSAAAAVFAGSAAAVGVSGSAEGFAEGVTGGGDATPVYPDTIDELVSYLGDDEARVIVLTKTFDFTDSEGTTTGTGCAPWGTASACQVAIDQDDWCENYEPDAPSVSVEYYNAGVLGITVTSNKSLIGEGSSGAIKGKGLRIVSGAENIIIQNIAVTDINPKYVWGGDAITLDDCDLVWIDHVTTARIGRQHYVLGTSADNRVSLTNNYIDGVSDYSATCDGYHYWGIYLDGDADLVTMKGNYIYHTSGRSPKVQDNTLLHCVNNYFYDISGHAFEIGEGGYVLAEGNVFQNVDTVLETYEGAAFTVPSTTAGEVCSTYLGRDCVINGFGCSGTFSEDSTSFLSDFEGKNIASASAYTSVASRVVANAGQGNL
UniProt ID: Q01172
Variant: A -> E at position 309-309
Variant annotation: in strain: 4M-147
Protein function: Pectinolytic enzymes consist of four classes of enzymes: pectin lyase, polygalacturonase, pectin methylesterase and rhamnogalacturonase. Among pectinolytic enzymes, pectin lyase is the most important in depolymerization of pectin, since it cleaves internal glycosidic bonds of highly methylated pectins.
Reference sequence:
MKYSTIFSAAAAVFAGSAAAVGVSGSAEGFAEGVTGGGDATPVYPDTIDELVSYLGDDEARVIVLTKTFDFTDSEGTTTGTGCAPWGTASACQVAIDQDDWCENYEPDAPSVSVEYYNAGVLGITVTSNKSLIGEGSSGAIKGKGLRIVSGAENIIIQNIAVTDINPKYVWGGDAITLDDCDLVWIDHVTTARIGRQHYVLGTSADNRVSLTNNYIDGVSDYSATCDGYHYWGIYLDGDADLVTMKGNYIYHTSGRSPKVQDNTLLHCVNNYFYDISGHAFEIGEGGYVLAEGNVFQNVDTVLETYEGAAFTVPSTTAGEVCSTYLGRDCVINGFGCSGTFSEDSTSFLSDFEGKNIASASAYTSVASRVVANAGQGNL
UniProt ID: Q01172
Variant: T -> S at position 316-316
Variant annotation: in strain: 4M-147
Protein function: Pectinolytic enzymes consist of four classes of enzymes: pectin lyase, polygalacturonase, pectin methylesterase and rhamnogalacturonase. Among pectinolytic enzymes, pectin lyase is the most important in depolymerization of pectin, since it cleaves internal glycosidic bonds of highly methylated pectins.
Reference sequence:
MKYSTIFSAAAAVFAGSAAAVGVSGSAEGFAEGVTGGGDATPVYPDTIDELVSYLGDDEARVIVLTKTFDFTDSEGTTTGTGCAPWGTASACQVAIDQDDWCENYEPDAPSVSVEYYNAGVLGITVTSNKSLIGEGSSGAIKGKGLRIVSGAENIIIQNIAVTDINPKYVWGGDAITLDDCDLVWIDHVTTARIGRQHYVLGTSADNRVSLTNNYIDGVSDYSATCDGYHYWGIYLDGDADLVTMKGNYIYHTSGRSPKVQDNTLLHCVNNYFYDISGHAFEIGEGGYVLAEGNVFQNVDTVLETYEGAAFTVPSTTAGEVCSTYLGRDCVINGFGCSGTFSEDSTSFLSDFEGKNIASASAYTSVASRVVANAGQGNL
UniProt ID: Q01172
Variant: C -> S at position 337-337
Variant annotation: in strain: 4M-147
Protein function: Pectinolytic enzymes consist of four classes of enzymes: pectin lyase, polygalacturonase, pectin methylesterase and rhamnogalacturonase. Among pectinolytic enzymes, pectin lyase is the most important in depolymerization of pectin, since it cleaves internal glycosidic bonds of highly methylated pectins.
Reference sequence:
MKYSTIFSAAAAVFAGSAAAVGVSGSAEGFAEGVTGGGDATPVYPDTIDELVSYLGDDEARVIVLTKTFDFTDSEGTTTGTGCAPWGTASACQVAIDQDDWCENYEPDAPSVSVEYYNAGVLGITVTSNKSLIGEGSSGAIKGKGLRIVSGAENIIIQNIAVTDINPKYVWGGDAITLDDCDLVWIDHVTTARIGRQHYVLGTSADNRVSLTNNYIDGVSDYSATCDGYHYWGIYLDGDADLVTMKGNYIYHTSGRSPKVQDNTLLHCVNNYFYDISGHAFEIGEGGYVLAEGNVFQNVDTVLETYEGAAFTVPSTTAGEVCSTYLGRDCVINGFGCSGTFSEDSTSFLSDFEGKNIASASAYTSVASRVVANAGQGNL
UniProt ID: Q01196
Variant: R -> Q at position 139-139
Variant annotation: in FPDMM; dbSNP:rs1060499616
Protein function: Isoform AML-1L interferes with the transactivation activity of RUNX1.
Reference sequence:
MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY
UniProt ID: Q01196
Variant: R -> Q at position 174-174
Variant annotation: in FPDMM; impaired phosphorylation; dbSNP:rs74315450
Protein function: Isoform AML-1L interferes with the transactivation activity of RUNX1.
Reference sequence:
MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY
UniProt ID: Q01196
Variant: S -> R at position 431-431
Variant annotation: in dbSNP:rs1055308
Protein function: Isoform AML-1L interferes with the transactivation activity of RUNX1.
Reference sequence:
MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY
UniProt ID: Q01196
Variant: S -> R at position 433-433
Variant annotation: in dbSNP:rs1055309
Protein function: Isoform AML-1L interferes with the transactivation activity of RUNX1.
Reference sequence:
MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY
UniProt ID: Q01324
Variant: S -> P at position 26-26
Variant annotation: in strain: CCUC 7757 and LCDC 845
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: S -> R at position 36-36
Variant annotation: in strain: CCUC 7757
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: T -> V at position 60-60
Variant annotation: in strain: CCUC 7757 and LCDC 845
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: G -> S at position 96-96
Variant annotation: in strain: CCUC 7757 and LCDC 845
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: T -> I at position 103-103
Variant annotation: in strain: CCUC 7757 and LCDC 845
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: EG -> QS at position 136-137
Variant annotation: in strain: CCUC 7757 and LCDC 845
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: P -> A at position 140-140
Variant annotation: in strain: CCUG 7852
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: NAVAE -> HAAAK at position 149-153
Variant annotation: in strain: LCDC 845
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: NAV -> HAA at position 149-151
Variant annotation: in strain: CCUC 7757
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: A -> R at position 150-150
Variant annotation: in strain: LCDC 77-143
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: ANP -> ENA at position 163-165
Variant annotation: in strain: CCUC 7757 and LCDC 845
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: GVG -> NVD at position 171-173
Variant annotation: in strain: CCUC 7757 and LCDC 845
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: I -> V at position 189-189
Variant annotation: in strain: CCUC 7757, CCUG 7852, LCDC 80-111 and LCDC 845
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA