sujigwak/NVAR huggingface dataset:
UniProt ID: Q30201
Variant: V -> A at position 295-295
Variant annotation: in HFE1; dbSNP:rs143175221
Protein function: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
Reference sequence:
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE
UniProt ID: Q30201
Variant: R -> M at position 330-330
Variant annotation: in HFE1; dbSNP:rs111033558
Protein function: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
Reference sequence:
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE
UniProt ID: Q30KQ4
Variant: Q -> L at position 19-19
Variant annotation: in dbSNP:rs6119768
Protein function: Has antibacterial activity.
Reference sequence:
MSVMKPCLMTIAILMILAQKTPGGLFRSHNGKSREPWNPCELYQGMCRNACREYEIQYLTCPNDQKCCLKLSVKITSSKNVKEDYDSNSNLSVTNSSSYSHI
UniProt ID: Q32836
Variant: D -> V at position 633-633
Variant annotation: in strain: cv. Irene
Protein function: Probable ATPase of unknown function. Its presence in a non-photosynthetic plant (Epifagus virginiana) and experiments in tobacco indicate that it has an essential function which is probably not related to photosynthesis.
Reference sequence:
MDEQEFKLFLKFFILELKGILREIKNSHQLLDSWTKLNSLGTLIQIFFNPERAFQLLDPRVWKILLSRNSRGWRKTRHFTIGRVLLFVVVVLMYRMSRRNMVENKKSYLTGVLPIPLNPIGHRNDTLEESIGFSNINRLILPLLYLPKGKKIPESSFLDPNESTWALPITKKSIMPESRWGSRWWCSWVGKRRDSSCKRAHKTVAGIEISFKEKKSKYLEFLEDSEYPTLINQREIQQIKEESILWHPSPSLERTEEEIKEFLGNSTRSLRSFFSDRWSELYLSSNPTERFTRDQKLLKQDLSFVPYRRSENQEIVNLFKIITYLQKTVSIYPISSDPGCDRVPKDELDVDSSKKISFFKKNPFFDLLNLFHDRSRGGYTLERDFESEERFEERADLFTLSITEPDQVYHNSPKMDLIHIQEKGYIRKVLDRFFLMNRSARNFESGIPGAQIGNETLSHRTLMKYTVNRHFSSLKKSRKKSFDPLLFIERSMNRDPAAYRDKWSKGGKTFQEHLEHFVSEQKNRFKVQKSRFKAVFDRFHQSQYSIDWSVFIDKQDFPKARLFFLFVLVRSFLYKSLPFLLSKLPLLLSKLPLLVSKVLPLLSKLLPFFFVSCGNIPIHRSEIRIYELKGPTDQPCNPLLESIGLQILHLNKLKPCLLDDHETSQKSKIVGTIDNTDSYFSILFDDEENWMNPVKAFQRSSLISAFYKANRLRFLNNPHRFSFYCNKIFPFVVEKARFKNSDFLYGQFLKTFFIRKKPFSLCGEKHAFGERATLLPIESEVSKILIPQVSKILIPDDFPQSGDERYNLCKSFHFPTRSVPLVDRALYSIADISERPLTEGQMVNLERTSFQPLSDIHLSDSERKNLHQDLNFNSNMGLIHTPYSEKDLPSEKRKKRNLGRNLKKCVEKGQMFRTLLSKMYRTLLSKWNLFQTYMPWFLTSTGYKYLTLLFLDLFSDLVPILSLGIRQNCVSLFDHILGDIRDDIRQGVIRPWQILQEKWVLPQRNRIREISRMCLRNLTLSAERIRRNNESPLTHTHLRSPNVLEFLYSTLLLLLVAGYLVCTYLSRLSKDYGELQTELKKVKSLMIPSYTIELRKLMDRYPPSELNSFGLKNLFLVAMEELKESLSVVGNMLEGGGRAYGVEAIFSNWNLNLIDISDLISLIPNPIDRITFSINTRHLSHTSKEIYSFIRKRERVYGAWIDDKIESLLSTSVAIDDCDRGNLLQFSTLTLTTEKGVDQILLSLTQSSKNASGSQMIEQPGEMYLRHVVDLQKKYLMGYEFNTSSLAERRIFLAHYQTMTYSKTSCGVNAFHFPSHEKPFSLRLDLSPPRGILVIGSIGTGRSYLIKSLAKNTHFPLITLEMEARSSWPFFQHLDEIYGDQLEYVYDDTSLSVEVEEEEDTSWGIEEWSLPDTREDDEIEDQAEMDTRRDLDGIEYTHAIQDMIDLGISVDAQLNFLPESILINEIEGHDVDELDEAETELWELWMEEWDRHLLGISLQFALVRAMTPCILWIPNIHDVDLEDRTTLAGLMNSLSGDSEGRSTRKTLVIASTHLPKKVDPALIASNRFNTCIKVRRLLSTQERERFFTLSYTRGFHFEKEIFDTNGFRSITTQDLAALTNEALSISITQKKSIIDTNTIRFALHRQTWAVESRSISISDHGILFYQTGRALAQNLFLSQGLIDPISVYIKKKSCNDDGYSYLYRWYLELGTSMKRLTILLYLLSCFAGSVAQDLWSPPGPDDKAEMFSYGLVENDSHLAQGLLELEGALVASGTEKACSRFDNDQVTLLFRAEPSLDRMQDGFCSIFEQEGEEAAPGLEKPLVTHIVSAPRIWNPWLILFDWIDIEEASRKEEEAELQDEEAELQDEGAGRKDEEAELQEFQDLEDPQDQEGGLQELQGLQKEEAYLYQKALELQAQEDELQKYGPGFLESGTIMKKYPTRNRFRFFTEQGFFQASQFIWYPADSLFFLLKEQALGFVFSQPEFFADEEISKEGLLALTVQRLPFSTTCHWFIKKRQERHFEFLIHRERWLRTNSSLSNGFFCSKTQTLFESYQYLSNLFLSNGRLVDQMTKTLLRKRWIFPDEMKIQIGFMYTGEGFPITSPERYVAMK
UniProt ID: Q32836
Variant: L -> F at position 1322-1322
Variant annotation: in strain: cv. Irene
Protein function: Probable ATPase of unknown function. Its presence in a non-photosynthetic plant (Epifagus virginiana) and experiments in tobacco indicate that it has an essential function which is probably not related to photosynthesis.
Reference sequence:
MDEQEFKLFLKFFILELKGILREIKNSHQLLDSWTKLNSLGTLIQIFFNPERAFQLLDPRVWKILLSRNSRGWRKTRHFTIGRVLLFVVVVLMYRMSRRNMVENKKSYLTGVLPIPLNPIGHRNDTLEESIGFSNINRLILPLLYLPKGKKIPESSFLDPNESTWALPITKKSIMPESRWGSRWWCSWVGKRRDSSCKRAHKTVAGIEISFKEKKSKYLEFLEDSEYPTLINQREIQQIKEESILWHPSPSLERTEEEIKEFLGNSTRSLRSFFSDRWSELYLSSNPTERFTRDQKLLKQDLSFVPYRRSENQEIVNLFKIITYLQKTVSIYPISSDPGCDRVPKDELDVDSSKKISFFKKNPFFDLLNLFHDRSRGGYTLERDFESEERFEERADLFTLSITEPDQVYHNSPKMDLIHIQEKGYIRKVLDRFFLMNRSARNFESGIPGAQIGNETLSHRTLMKYTVNRHFSSLKKSRKKSFDPLLFIERSMNRDPAAYRDKWSKGGKTFQEHLEHFVSEQKNRFKVQKSRFKAVFDRFHQSQYSIDWSVFIDKQDFPKARLFFLFVLVRSFLYKSLPFLLSKLPLLLSKLPLLVSKVLPLLSKLLPFFFVSCGNIPIHRSEIRIYELKGPTDQPCNPLLESIGLQILHLNKLKPCLLDDHETSQKSKIVGTIDNTDSYFSILFDDEENWMNPVKAFQRSSLISAFYKANRLRFLNNPHRFSFYCNKIFPFVVEKARFKNSDFLYGQFLKTFFIRKKPFSLCGEKHAFGERATLLPIESEVSKILIPQVSKILIPDDFPQSGDERYNLCKSFHFPTRSVPLVDRALYSIADISERPLTEGQMVNLERTSFQPLSDIHLSDSERKNLHQDLNFNSNMGLIHTPYSEKDLPSEKRKKRNLGRNLKKCVEKGQMFRTLLSKMYRTLLSKWNLFQTYMPWFLTSTGYKYLTLLFLDLFSDLVPILSLGIRQNCVSLFDHILGDIRDDIRQGVIRPWQILQEKWVLPQRNRIREISRMCLRNLTLSAERIRRNNESPLTHTHLRSPNVLEFLYSTLLLLLVAGYLVCTYLSRLSKDYGELQTELKKVKSLMIPSYTIELRKLMDRYPPSELNSFGLKNLFLVAMEELKESLSVVGNMLEGGGRAYGVEAIFSNWNLNLIDISDLISLIPNPIDRITFSINTRHLSHTSKEIYSFIRKRERVYGAWIDDKIESLLSTSVAIDDCDRGNLLQFSTLTLTTEKGVDQILLSLTQSSKNASGSQMIEQPGEMYLRHVVDLQKKYLMGYEFNTSSLAERRIFLAHYQTMTYSKTSCGVNAFHFPSHEKPFSLRLDLSPPRGILVIGSIGTGRSYLIKSLAKNTHFPLITLEMEARSSWPFFQHLDEIYGDQLEYVYDDTSLSVEVEEEEDTSWGIEEWSLPDTREDDEIEDQAEMDTRRDLDGIEYTHAIQDMIDLGISVDAQLNFLPESILINEIEGHDVDELDEAETELWELWMEEWDRHLLGISLQFALVRAMTPCILWIPNIHDVDLEDRTTLAGLMNSLSGDSEGRSTRKTLVIASTHLPKKVDPALIASNRFNTCIKVRRLLSTQERERFFTLSYTRGFHFEKEIFDTNGFRSITTQDLAALTNEALSISITQKKSIIDTNTIRFALHRQTWAVESRSISISDHGILFYQTGRALAQNLFLSQGLIDPISVYIKKKSCNDDGYSYLYRWYLELGTSMKRLTILLYLLSCFAGSVAQDLWSPPGPDDKAEMFSYGLVENDSHLAQGLLELEGALVASGTEKACSRFDNDQVTLLFRAEPSLDRMQDGFCSIFEQEGEEAAPGLEKPLVTHIVSAPRIWNPWLILFDWIDIEEASRKEEEAELQDEEAELQDEGAGRKDEEAELQEFQDLEDPQDQEGGLQELQGLQKEEAYLYQKALELQAQEDELQKYGPGFLESGTIMKKYPTRNRFRFFTEQGFFQASQFIWYPADSLFFLLKEQALGFVFSQPEFFADEEISKEGLLALTVQRLPFSTTCHWFIKKRQERHFEFLIHRERWLRTNSSLSNGFFCSKTQTLFESYQYLSNLFLSNGRLVDQMTKTLLRKRWIFPDEMKIQIGFMYTGEGFPITSPERYVAMK
UniProt ID: Q32836
Variant: S -> L at position 1658-1658
Variant annotation: in strain: cv. Irene
Protein function: Probable ATPase of unknown function. Its presence in a non-photosynthetic plant (Epifagus virginiana) and experiments in tobacco indicate that it has an essential function which is probably not related to photosynthesis.
Reference sequence:
MDEQEFKLFLKFFILELKGILREIKNSHQLLDSWTKLNSLGTLIQIFFNPERAFQLLDPRVWKILLSRNSRGWRKTRHFTIGRVLLFVVVVLMYRMSRRNMVENKKSYLTGVLPIPLNPIGHRNDTLEESIGFSNINRLILPLLYLPKGKKIPESSFLDPNESTWALPITKKSIMPESRWGSRWWCSWVGKRRDSSCKRAHKTVAGIEISFKEKKSKYLEFLEDSEYPTLINQREIQQIKEESILWHPSPSLERTEEEIKEFLGNSTRSLRSFFSDRWSELYLSSNPTERFTRDQKLLKQDLSFVPYRRSENQEIVNLFKIITYLQKTVSIYPISSDPGCDRVPKDELDVDSSKKISFFKKNPFFDLLNLFHDRSRGGYTLERDFESEERFEERADLFTLSITEPDQVYHNSPKMDLIHIQEKGYIRKVLDRFFLMNRSARNFESGIPGAQIGNETLSHRTLMKYTVNRHFSSLKKSRKKSFDPLLFIERSMNRDPAAYRDKWSKGGKTFQEHLEHFVSEQKNRFKVQKSRFKAVFDRFHQSQYSIDWSVFIDKQDFPKARLFFLFVLVRSFLYKSLPFLLSKLPLLLSKLPLLVSKVLPLLSKLLPFFFVSCGNIPIHRSEIRIYELKGPTDQPCNPLLESIGLQILHLNKLKPCLLDDHETSQKSKIVGTIDNTDSYFSILFDDEENWMNPVKAFQRSSLISAFYKANRLRFLNNPHRFSFYCNKIFPFVVEKARFKNSDFLYGQFLKTFFIRKKPFSLCGEKHAFGERATLLPIESEVSKILIPQVSKILIPDDFPQSGDERYNLCKSFHFPTRSVPLVDRALYSIADISERPLTEGQMVNLERTSFQPLSDIHLSDSERKNLHQDLNFNSNMGLIHTPYSEKDLPSEKRKKRNLGRNLKKCVEKGQMFRTLLSKMYRTLLSKWNLFQTYMPWFLTSTGYKYLTLLFLDLFSDLVPILSLGIRQNCVSLFDHILGDIRDDIRQGVIRPWQILQEKWVLPQRNRIREISRMCLRNLTLSAERIRRNNESPLTHTHLRSPNVLEFLYSTLLLLLVAGYLVCTYLSRLSKDYGELQTELKKVKSLMIPSYTIELRKLMDRYPPSELNSFGLKNLFLVAMEELKESLSVVGNMLEGGGRAYGVEAIFSNWNLNLIDISDLISLIPNPIDRITFSINTRHLSHTSKEIYSFIRKRERVYGAWIDDKIESLLSTSVAIDDCDRGNLLQFSTLTLTTEKGVDQILLSLTQSSKNASGSQMIEQPGEMYLRHVVDLQKKYLMGYEFNTSSLAERRIFLAHYQTMTYSKTSCGVNAFHFPSHEKPFSLRLDLSPPRGILVIGSIGTGRSYLIKSLAKNTHFPLITLEMEARSSWPFFQHLDEIYGDQLEYVYDDTSLSVEVEEEEDTSWGIEEWSLPDTREDDEIEDQAEMDTRRDLDGIEYTHAIQDMIDLGISVDAQLNFLPESILINEIEGHDVDELDEAETELWELWMEEWDRHLLGISLQFALVRAMTPCILWIPNIHDVDLEDRTTLAGLMNSLSGDSEGRSTRKTLVIASTHLPKKVDPALIASNRFNTCIKVRRLLSTQERERFFTLSYTRGFHFEKEIFDTNGFRSITTQDLAALTNEALSISITQKKSIIDTNTIRFALHRQTWAVESRSISISDHGILFYQTGRALAQNLFLSQGLIDPISVYIKKKSCNDDGYSYLYRWYLELGTSMKRLTILLYLLSCFAGSVAQDLWSPPGPDDKAEMFSYGLVENDSHLAQGLLELEGALVASGTEKACSRFDNDQVTLLFRAEPSLDRMQDGFCSIFEQEGEEAAPGLEKPLVTHIVSAPRIWNPWLILFDWIDIEEASRKEEEAELQDEEAELQDEGAGRKDEEAELQEFQDLEDPQDQEGGLQELQGLQKEEAYLYQKALELQAQEDELQKYGPGFLESGTIMKKYPTRNRFRFFTEQGFFQASQFIWYPADSLFFLLKEQALGFVFSQPEFFADEEISKEGLLALTVQRLPFSTTCHWFIKKRQERHFEFLIHRERWLRTNSSLSNGFFCSKTQTLFESYQYLSNLFLSNGRLVDQMTKTLLRKRWIFPDEMKIQIGFMYTGEGFPITSPERYVAMK
UniProt ID: Q32836
Variant: KS -> NW at position 1692-1693
Variant annotation: in strain: cv. Irene
Protein function: Probable ATPase of unknown function. Its presence in a non-photosynthetic plant (Epifagus virginiana) and experiments in tobacco indicate that it has an essential function which is probably not related to photosynthesis.
Reference sequence:
MDEQEFKLFLKFFILELKGILREIKNSHQLLDSWTKLNSLGTLIQIFFNPERAFQLLDPRVWKILLSRNSRGWRKTRHFTIGRVLLFVVVVLMYRMSRRNMVENKKSYLTGVLPIPLNPIGHRNDTLEESIGFSNINRLILPLLYLPKGKKIPESSFLDPNESTWALPITKKSIMPESRWGSRWWCSWVGKRRDSSCKRAHKTVAGIEISFKEKKSKYLEFLEDSEYPTLINQREIQQIKEESILWHPSPSLERTEEEIKEFLGNSTRSLRSFFSDRWSELYLSSNPTERFTRDQKLLKQDLSFVPYRRSENQEIVNLFKIITYLQKTVSIYPISSDPGCDRVPKDELDVDSSKKISFFKKNPFFDLLNLFHDRSRGGYTLERDFESEERFEERADLFTLSITEPDQVYHNSPKMDLIHIQEKGYIRKVLDRFFLMNRSARNFESGIPGAQIGNETLSHRTLMKYTVNRHFSSLKKSRKKSFDPLLFIERSMNRDPAAYRDKWSKGGKTFQEHLEHFVSEQKNRFKVQKSRFKAVFDRFHQSQYSIDWSVFIDKQDFPKARLFFLFVLVRSFLYKSLPFLLSKLPLLLSKLPLLVSKVLPLLSKLLPFFFVSCGNIPIHRSEIRIYELKGPTDQPCNPLLESIGLQILHLNKLKPCLLDDHETSQKSKIVGTIDNTDSYFSILFDDEENWMNPVKAFQRSSLISAFYKANRLRFLNNPHRFSFYCNKIFPFVVEKARFKNSDFLYGQFLKTFFIRKKPFSLCGEKHAFGERATLLPIESEVSKILIPQVSKILIPDDFPQSGDERYNLCKSFHFPTRSVPLVDRALYSIADISERPLTEGQMVNLERTSFQPLSDIHLSDSERKNLHQDLNFNSNMGLIHTPYSEKDLPSEKRKKRNLGRNLKKCVEKGQMFRTLLSKMYRTLLSKWNLFQTYMPWFLTSTGYKYLTLLFLDLFSDLVPILSLGIRQNCVSLFDHILGDIRDDIRQGVIRPWQILQEKWVLPQRNRIREISRMCLRNLTLSAERIRRNNESPLTHTHLRSPNVLEFLYSTLLLLLVAGYLVCTYLSRLSKDYGELQTELKKVKSLMIPSYTIELRKLMDRYPPSELNSFGLKNLFLVAMEELKESLSVVGNMLEGGGRAYGVEAIFSNWNLNLIDISDLISLIPNPIDRITFSINTRHLSHTSKEIYSFIRKRERVYGAWIDDKIESLLSTSVAIDDCDRGNLLQFSTLTLTTEKGVDQILLSLTQSSKNASGSQMIEQPGEMYLRHVVDLQKKYLMGYEFNTSSLAERRIFLAHYQTMTYSKTSCGVNAFHFPSHEKPFSLRLDLSPPRGILVIGSIGTGRSYLIKSLAKNTHFPLITLEMEARSSWPFFQHLDEIYGDQLEYVYDDTSLSVEVEEEEDTSWGIEEWSLPDTREDDEIEDQAEMDTRRDLDGIEYTHAIQDMIDLGISVDAQLNFLPESILINEIEGHDVDELDEAETELWELWMEEWDRHLLGISLQFALVRAMTPCILWIPNIHDVDLEDRTTLAGLMNSLSGDSEGRSTRKTLVIASTHLPKKVDPALIASNRFNTCIKVRRLLSTQERERFFTLSYTRGFHFEKEIFDTNGFRSITTQDLAALTNEALSISITQKKSIIDTNTIRFALHRQTWAVESRSISISDHGILFYQTGRALAQNLFLSQGLIDPISVYIKKKSCNDDGYSYLYRWYLELGTSMKRLTILLYLLSCFAGSVAQDLWSPPGPDDKAEMFSYGLVENDSHLAQGLLELEGALVASGTEKACSRFDNDQVTLLFRAEPSLDRMQDGFCSIFEQEGEEAAPGLEKPLVTHIVSAPRIWNPWLILFDWIDIEEASRKEEEAELQDEEAELQDEGAGRKDEEAELQEFQDLEDPQDQEGGLQELQGLQKEEAYLYQKALELQAQEDELQKYGPGFLESGTIMKKYPTRNRFRFFTEQGFFQASQFIWYPADSLFFLLKEQALGFVFSQPEFFADEEISKEGLLALTVQRLPFSTTCHWFIKKRQERHFEFLIHRERWLRTNSSLSNGFFCSKTQTLFESYQYLSNLFLSNGRLVDQMTKTLLRKRWIFPDEMKIQIGFMYTGEGFPITSPERYVAMK
UniProt ID: Q32836
Variant: AC -> LS at position 1777-1778
Variant annotation: in strain: cv. Irene
Protein function: Probable ATPase of unknown function. Its presence in a non-photosynthetic plant (Epifagus virginiana) and experiments in tobacco indicate that it has an essential function which is probably not related to photosynthesis.
Reference sequence:
MDEQEFKLFLKFFILELKGILREIKNSHQLLDSWTKLNSLGTLIQIFFNPERAFQLLDPRVWKILLSRNSRGWRKTRHFTIGRVLLFVVVVLMYRMSRRNMVENKKSYLTGVLPIPLNPIGHRNDTLEESIGFSNINRLILPLLYLPKGKKIPESSFLDPNESTWALPITKKSIMPESRWGSRWWCSWVGKRRDSSCKRAHKTVAGIEISFKEKKSKYLEFLEDSEYPTLINQREIQQIKEESILWHPSPSLERTEEEIKEFLGNSTRSLRSFFSDRWSELYLSSNPTERFTRDQKLLKQDLSFVPYRRSENQEIVNLFKIITYLQKTVSIYPISSDPGCDRVPKDELDVDSSKKISFFKKNPFFDLLNLFHDRSRGGYTLERDFESEERFEERADLFTLSITEPDQVYHNSPKMDLIHIQEKGYIRKVLDRFFLMNRSARNFESGIPGAQIGNETLSHRTLMKYTVNRHFSSLKKSRKKSFDPLLFIERSMNRDPAAYRDKWSKGGKTFQEHLEHFVSEQKNRFKVQKSRFKAVFDRFHQSQYSIDWSVFIDKQDFPKARLFFLFVLVRSFLYKSLPFLLSKLPLLLSKLPLLVSKVLPLLSKLLPFFFVSCGNIPIHRSEIRIYELKGPTDQPCNPLLESIGLQILHLNKLKPCLLDDHETSQKSKIVGTIDNTDSYFSILFDDEENWMNPVKAFQRSSLISAFYKANRLRFLNNPHRFSFYCNKIFPFVVEKARFKNSDFLYGQFLKTFFIRKKPFSLCGEKHAFGERATLLPIESEVSKILIPQVSKILIPDDFPQSGDERYNLCKSFHFPTRSVPLVDRALYSIADISERPLTEGQMVNLERTSFQPLSDIHLSDSERKNLHQDLNFNSNMGLIHTPYSEKDLPSEKRKKRNLGRNLKKCVEKGQMFRTLLSKMYRTLLSKWNLFQTYMPWFLTSTGYKYLTLLFLDLFSDLVPILSLGIRQNCVSLFDHILGDIRDDIRQGVIRPWQILQEKWVLPQRNRIREISRMCLRNLTLSAERIRRNNESPLTHTHLRSPNVLEFLYSTLLLLLVAGYLVCTYLSRLSKDYGELQTELKKVKSLMIPSYTIELRKLMDRYPPSELNSFGLKNLFLVAMEELKESLSVVGNMLEGGGRAYGVEAIFSNWNLNLIDISDLISLIPNPIDRITFSINTRHLSHTSKEIYSFIRKRERVYGAWIDDKIESLLSTSVAIDDCDRGNLLQFSTLTLTTEKGVDQILLSLTQSSKNASGSQMIEQPGEMYLRHVVDLQKKYLMGYEFNTSSLAERRIFLAHYQTMTYSKTSCGVNAFHFPSHEKPFSLRLDLSPPRGILVIGSIGTGRSYLIKSLAKNTHFPLITLEMEARSSWPFFQHLDEIYGDQLEYVYDDTSLSVEVEEEEDTSWGIEEWSLPDTREDDEIEDQAEMDTRRDLDGIEYTHAIQDMIDLGISVDAQLNFLPESILINEIEGHDVDELDEAETELWELWMEEWDRHLLGISLQFALVRAMTPCILWIPNIHDVDLEDRTTLAGLMNSLSGDSEGRSTRKTLVIASTHLPKKVDPALIASNRFNTCIKVRRLLSTQERERFFTLSYTRGFHFEKEIFDTNGFRSITTQDLAALTNEALSISITQKKSIIDTNTIRFALHRQTWAVESRSISISDHGILFYQTGRALAQNLFLSQGLIDPISVYIKKKSCNDDGYSYLYRWYLELGTSMKRLTILLYLLSCFAGSVAQDLWSPPGPDDKAEMFSYGLVENDSHLAQGLLELEGALVASGTEKACSRFDNDQVTLLFRAEPSLDRMQDGFCSIFEQEGEEAAPGLEKPLVTHIVSAPRIWNPWLILFDWIDIEEASRKEEEAELQDEEAELQDEGAGRKDEEAELQEFQDLEDPQDQEGGLQELQGLQKEEAYLYQKALELQAQEDELQKYGPGFLESGTIMKKYPTRNRFRFFTEQGFFQASQFIWYPADSLFFLLKEQALGFVFSQPEFFADEEISKEGLLALTVQRLPFSTTCHWFIKKRQERHFEFLIHRERWLRTNSSLSNGFFCSKTQTLFESYQYLSNLFLSNGRLVDQMTKTLLRKRWIFPDEMKIQIGFMYTGEGFPITSPERYVAMK
UniProt ID: Q32836
Variant: RAEPS -> GRTK at position 1791-1795
Variant annotation: in strain: cv. Irene
Protein function: Probable ATPase of unknown function. Its presence in a non-photosynthetic plant (Epifagus virginiana) and experiments in tobacco indicate that it has an essential function which is probably not related to photosynthesis.
Reference sequence:
MDEQEFKLFLKFFILELKGILREIKNSHQLLDSWTKLNSLGTLIQIFFNPERAFQLLDPRVWKILLSRNSRGWRKTRHFTIGRVLLFVVVVLMYRMSRRNMVENKKSYLTGVLPIPLNPIGHRNDTLEESIGFSNINRLILPLLYLPKGKKIPESSFLDPNESTWALPITKKSIMPESRWGSRWWCSWVGKRRDSSCKRAHKTVAGIEISFKEKKSKYLEFLEDSEYPTLINQREIQQIKEESILWHPSPSLERTEEEIKEFLGNSTRSLRSFFSDRWSELYLSSNPTERFTRDQKLLKQDLSFVPYRRSENQEIVNLFKIITYLQKTVSIYPISSDPGCDRVPKDELDVDSSKKISFFKKNPFFDLLNLFHDRSRGGYTLERDFESEERFEERADLFTLSITEPDQVYHNSPKMDLIHIQEKGYIRKVLDRFFLMNRSARNFESGIPGAQIGNETLSHRTLMKYTVNRHFSSLKKSRKKSFDPLLFIERSMNRDPAAYRDKWSKGGKTFQEHLEHFVSEQKNRFKVQKSRFKAVFDRFHQSQYSIDWSVFIDKQDFPKARLFFLFVLVRSFLYKSLPFLLSKLPLLLSKLPLLVSKVLPLLSKLLPFFFVSCGNIPIHRSEIRIYELKGPTDQPCNPLLESIGLQILHLNKLKPCLLDDHETSQKSKIVGTIDNTDSYFSILFDDEENWMNPVKAFQRSSLISAFYKANRLRFLNNPHRFSFYCNKIFPFVVEKARFKNSDFLYGQFLKTFFIRKKPFSLCGEKHAFGERATLLPIESEVSKILIPQVSKILIPDDFPQSGDERYNLCKSFHFPTRSVPLVDRALYSIADISERPLTEGQMVNLERTSFQPLSDIHLSDSERKNLHQDLNFNSNMGLIHTPYSEKDLPSEKRKKRNLGRNLKKCVEKGQMFRTLLSKMYRTLLSKWNLFQTYMPWFLTSTGYKYLTLLFLDLFSDLVPILSLGIRQNCVSLFDHILGDIRDDIRQGVIRPWQILQEKWVLPQRNRIREISRMCLRNLTLSAERIRRNNESPLTHTHLRSPNVLEFLYSTLLLLLVAGYLVCTYLSRLSKDYGELQTELKKVKSLMIPSYTIELRKLMDRYPPSELNSFGLKNLFLVAMEELKESLSVVGNMLEGGGRAYGVEAIFSNWNLNLIDISDLISLIPNPIDRITFSINTRHLSHTSKEIYSFIRKRERVYGAWIDDKIESLLSTSVAIDDCDRGNLLQFSTLTLTTEKGVDQILLSLTQSSKNASGSQMIEQPGEMYLRHVVDLQKKYLMGYEFNTSSLAERRIFLAHYQTMTYSKTSCGVNAFHFPSHEKPFSLRLDLSPPRGILVIGSIGTGRSYLIKSLAKNTHFPLITLEMEARSSWPFFQHLDEIYGDQLEYVYDDTSLSVEVEEEEDTSWGIEEWSLPDTREDDEIEDQAEMDTRRDLDGIEYTHAIQDMIDLGISVDAQLNFLPESILINEIEGHDVDELDEAETELWELWMEEWDRHLLGISLQFALVRAMTPCILWIPNIHDVDLEDRTTLAGLMNSLSGDSEGRSTRKTLVIASTHLPKKVDPALIASNRFNTCIKVRRLLSTQERERFFTLSYTRGFHFEKEIFDTNGFRSITTQDLAALTNEALSISITQKKSIIDTNTIRFALHRQTWAVESRSISISDHGILFYQTGRALAQNLFLSQGLIDPISVYIKKKSCNDDGYSYLYRWYLELGTSMKRLTILLYLLSCFAGSVAQDLWSPPGPDDKAEMFSYGLVENDSHLAQGLLELEGALVASGTEKACSRFDNDQVTLLFRAEPSLDRMQDGFCSIFEQEGEEAAPGLEKPLVTHIVSAPRIWNPWLILFDWIDIEEASRKEEEAELQDEEAELQDEGAGRKDEEAELQEFQDLEDPQDQEGGLQELQGLQKEEAYLYQKALELQAQEDELQKYGPGFLESGTIMKKYPTRNRFRFFTEQGFFQASQFIWYPADSLFFLLKEQALGFVFSQPEFFADEEISKEGLLALTVQRLPFSTTCHWFIKKRQERHFEFLIHRERWLRTNSSLSNGFFCSKTQTLFESYQYLSNLFLSNGRLVDQMTKTLLRKRWIFPDEMKIQIGFMYTGEGFPITSPERYVAMK
UniProt ID: Q32836
Variant: EA -> DG at position 1847-1848
Variant annotation: in strain: cv. Irene
Protein function: Probable ATPase of unknown function. Its presence in a non-photosynthetic plant (Epifagus virginiana) and experiments in tobacco indicate that it has an essential function which is probably not related to photosynthesis.
Reference sequence:
MDEQEFKLFLKFFILELKGILREIKNSHQLLDSWTKLNSLGTLIQIFFNPERAFQLLDPRVWKILLSRNSRGWRKTRHFTIGRVLLFVVVVLMYRMSRRNMVENKKSYLTGVLPIPLNPIGHRNDTLEESIGFSNINRLILPLLYLPKGKKIPESSFLDPNESTWALPITKKSIMPESRWGSRWWCSWVGKRRDSSCKRAHKTVAGIEISFKEKKSKYLEFLEDSEYPTLINQREIQQIKEESILWHPSPSLERTEEEIKEFLGNSTRSLRSFFSDRWSELYLSSNPTERFTRDQKLLKQDLSFVPYRRSENQEIVNLFKIITYLQKTVSIYPISSDPGCDRVPKDELDVDSSKKISFFKKNPFFDLLNLFHDRSRGGYTLERDFESEERFEERADLFTLSITEPDQVYHNSPKMDLIHIQEKGYIRKVLDRFFLMNRSARNFESGIPGAQIGNETLSHRTLMKYTVNRHFSSLKKSRKKSFDPLLFIERSMNRDPAAYRDKWSKGGKTFQEHLEHFVSEQKNRFKVQKSRFKAVFDRFHQSQYSIDWSVFIDKQDFPKARLFFLFVLVRSFLYKSLPFLLSKLPLLLSKLPLLVSKVLPLLSKLLPFFFVSCGNIPIHRSEIRIYELKGPTDQPCNPLLESIGLQILHLNKLKPCLLDDHETSQKSKIVGTIDNTDSYFSILFDDEENWMNPVKAFQRSSLISAFYKANRLRFLNNPHRFSFYCNKIFPFVVEKARFKNSDFLYGQFLKTFFIRKKPFSLCGEKHAFGERATLLPIESEVSKILIPQVSKILIPDDFPQSGDERYNLCKSFHFPTRSVPLVDRALYSIADISERPLTEGQMVNLERTSFQPLSDIHLSDSERKNLHQDLNFNSNMGLIHTPYSEKDLPSEKRKKRNLGRNLKKCVEKGQMFRTLLSKMYRTLLSKWNLFQTYMPWFLTSTGYKYLTLLFLDLFSDLVPILSLGIRQNCVSLFDHILGDIRDDIRQGVIRPWQILQEKWVLPQRNRIREISRMCLRNLTLSAERIRRNNESPLTHTHLRSPNVLEFLYSTLLLLLVAGYLVCTYLSRLSKDYGELQTELKKVKSLMIPSYTIELRKLMDRYPPSELNSFGLKNLFLVAMEELKESLSVVGNMLEGGGRAYGVEAIFSNWNLNLIDISDLISLIPNPIDRITFSINTRHLSHTSKEIYSFIRKRERVYGAWIDDKIESLLSTSVAIDDCDRGNLLQFSTLTLTTEKGVDQILLSLTQSSKNASGSQMIEQPGEMYLRHVVDLQKKYLMGYEFNTSSLAERRIFLAHYQTMTYSKTSCGVNAFHFPSHEKPFSLRLDLSPPRGILVIGSIGTGRSYLIKSLAKNTHFPLITLEMEARSSWPFFQHLDEIYGDQLEYVYDDTSLSVEVEEEEDTSWGIEEWSLPDTREDDEIEDQAEMDTRRDLDGIEYTHAIQDMIDLGISVDAQLNFLPESILINEIEGHDVDELDEAETELWELWMEEWDRHLLGISLQFALVRAMTPCILWIPNIHDVDLEDRTTLAGLMNSLSGDSEGRSTRKTLVIASTHLPKKVDPALIASNRFNTCIKVRRLLSTQERERFFTLSYTRGFHFEKEIFDTNGFRSITTQDLAALTNEALSISITQKKSIIDTNTIRFALHRQTWAVESRSISISDHGILFYQTGRALAQNLFLSQGLIDPISVYIKKKSCNDDGYSYLYRWYLELGTSMKRLTILLYLLSCFAGSVAQDLWSPPGPDDKAEMFSYGLVENDSHLAQGLLELEGALVASGTEKACSRFDNDQVTLLFRAEPSLDRMQDGFCSIFEQEGEEAAPGLEKPLVTHIVSAPRIWNPWLILFDWIDIEEASRKEEEAELQDEEAELQDEGAGRKDEEAELQEFQDLEDPQDQEGGLQELQGLQKEEAYLYQKALELQAQEDELQKYGPGFLESGTIMKKYPTRNRFRFFTEQGFFQASQFIWYPADSLFFLLKEQALGFVFSQPEFFADEEISKEGLLALTVQRLPFSTTCHWFIKKRQERHFEFLIHRERWLRTNSSLSNGFFCSKTQTLFESYQYLSNLFLSNGRLVDQMTKTLLRKRWIFPDEMKIQIGFMYTGEGFPITSPERYVAMK
UniProt ID: Q32M02
Variant: R -> H at position 109-109
Variant annotation: in prebycusis phenotype; when associated with waltzer cadherin 23 mutant
Protein function: Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis. Important for maintaining functional hair-cell bundles in the inner ear. May stiffen the longer stereocilia of hair-cell bundles in the inner ear enabling better force transmission to tip links.
Reference sequence:
MPTNGLHQVLKIQFGLVNDADRYLTAESFGFKVNASAASLKRKQIWVLEPDPGQGTAVLFRSSHLGRYLSAEEDGRVACEMDQPGRDCRFLVLPQPDGRWVLQSEPHGRFFGGIEDRLSCFATAISPAELWTVHLAIHPQAHLLSVSRRRYVHLCLQEDEMAADGDMPWGVDALVTLIFQSRRYCLKSYDSRYLRSDGRLVWEPEAHACYTLEFKAGKLAFKDCDGRYLAPVGPAGTLKAGRNTRPSKDELFDLEQSHPQVVLVAANRRYISVRQGINVSANQDEELGHETFLMQIDQETKKCTFYSSTGGYWTLVTHGGIQATATQVSANTMFEIEWHGRRVALKASNGRFVCMKKNGQLAAISDFVGEDELFTLKLINRPLLVLRGLDGFVCHRRGSNQLDTNRSTYDVFHLSFRDGAYQIRGRGGGFWYTGSHGSVCSDGDLAEDFLFEFRERGRLAIRALSGKYLRGGASGLLRADADLPVGEALWEY
UniProt ID: Q32MQ0
Variant: M -> V at position 235-235
Variant annotation: in dbSNP:rs8074277
Protein function: Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression.
Reference sequence:
MSLLKERKPKKPHYIPRPPGKPFKYKCFQCPFTCNEKSHLFNHMKYGLCKNSITLVSEQDRVPKCPKSNSLDPKQTNQPDATAKPASSKSVANGLSAFDSKLQHSSAREDIKENLELQARGTHRCLGQKPALHRASPCKSPAPEAALGAQPALEGAARPSAFVPVGEHRLKGPDNAEAPETLALHNPTAKAVSFHTKSAFHTPGYPWKAGSPFLPPEFPHKISSTKGLGAISPYMHPTIPEYPPHFYTEHGLATIYSPYLLAGSSPECDAPLLSVYGTQDPRHFLPHPGPIPKHLAPSPATYDHYRFFQQYPSNLPIPYGFYRPESAFSSYGLRLPPVTGLTRDQSSHLLEEATLVYPASSPSRLNPSDPNRKHVEFESPIPEAKDSSKAGQRDTEGSKMSPRAGSAATGSPGRPSPTDFMQTSQTCEGLYDLSNKAASSALGRLYPPEQSLTAFRPVKKSTECLPAQAAETTAESPVSLNVVNGDPPAPTGSASLVSEAAPSSPDDSSGMGPLNLSKKSEINLAATHEPTYQGSPQAETASFSELQDLPLNLSVKDPCNTQAPRPAFPGRPRAAEPAAAVPQKTGTEGSEDGPSHPETKPGSLDGDGAPPTGPGEEAPDACAVDSSEEQKQTAAVALCQLAAYSPRNIRVGDGDAAAPEPACRQDTPTLSSMESQEAQCDLRPKGQKRTSLRDAGKSQQGAKKAKLQDTARVFTLRRRARVS
UniProt ID: Q32MQ0
Variant: P -> L at position 288-288
Variant annotation: in dbSNP:rs35653278
Protein function: Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression.
Reference sequence:
MSLLKERKPKKPHYIPRPPGKPFKYKCFQCPFTCNEKSHLFNHMKYGLCKNSITLVSEQDRVPKCPKSNSLDPKQTNQPDATAKPASSKSVANGLSAFDSKLQHSSAREDIKENLELQARGTHRCLGQKPALHRASPCKSPAPEAALGAQPALEGAARPSAFVPVGEHRLKGPDNAEAPETLALHNPTAKAVSFHTKSAFHTPGYPWKAGSPFLPPEFPHKISSTKGLGAISPYMHPTIPEYPPHFYTEHGLATIYSPYLLAGSSPECDAPLLSVYGTQDPRHFLPHPGPIPKHLAPSPATYDHYRFFQQYPSNLPIPYGFYRPESAFSSYGLRLPPVTGLTRDQSSHLLEEATLVYPASSPSRLNPSDPNRKHVEFESPIPEAKDSSKAGQRDTEGSKMSPRAGSAATGSPGRPSPTDFMQTSQTCEGLYDLSNKAASSALGRLYPPEQSLTAFRPVKKSTECLPAQAAETTAESPVSLNVVNGDPPAPTGSASLVSEAAPSSPDDSSGMGPLNLSKKSEINLAATHEPTYQGSPQAETASFSELQDLPLNLSVKDPCNTQAPRPAFPGRPRAAEPAAAVPQKTGTEGSEDGPSHPETKPGSLDGDGAPPTGPGEEAPDACAVDSSEEQKQTAAVALCQLAAYSPRNIRVGDGDAAAPEPACRQDTPTLSSMESQEAQCDLRPKGQKRTSLRDAGKSQQGAKKAKLQDTARVFTLRRRARVS
UniProt ID: Q32MQ0
Variant: Q -> R at position 392-392
Variant annotation: in dbSNP:rs34687659
Protein function: Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression.
Reference sequence:
MSLLKERKPKKPHYIPRPPGKPFKYKCFQCPFTCNEKSHLFNHMKYGLCKNSITLVSEQDRVPKCPKSNSLDPKQTNQPDATAKPASSKSVANGLSAFDSKLQHSSAREDIKENLELQARGTHRCLGQKPALHRASPCKSPAPEAALGAQPALEGAARPSAFVPVGEHRLKGPDNAEAPETLALHNPTAKAVSFHTKSAFHTPGYPWKAGSPFLPPEFPHKISSTKGLGAISPYMHPTIPEYPPHFYTEHGLATIYSPYLLAGSSPECDAPLLSVYGTQDPRHFLPHPGPIPKHLAPSPATYDHYRFFQQYPSNLPIPYGFYRPESAFSSYGLRLPPVTGLTRDQSSHLLEEATLVYPASSPSRLNPSDPNRKHVEFESPIPEAKDSSKAGQRDTEGSKMSPRAGSAATGSPGRPSPTDFMQTSQTCEGLYDLSNKAASSALGRLYPPEQSLTAFRPVKKSTECLPAQAAETTAESPVSLNVVNGDPPAPTGSASLVSEAAPSSPDDSSGMGPLNLSKKSEINLAATHEPTYQGSPQAETASFSELQDLPLNLSVKDPCNTQAPRPAFPGRPRAAEPAAAVPQKTGTEGSEDGPSHPETKPGSLDGDGAPPTGPGEEAPDACAVDSSEEQKQTAAVALCQLAAYSPRNIRVGDGDAAAPEPACRQDTPTLSSMESQEAQCDLRPKGQKRTSLRDAGKSQQGAKKAKLQDTARVFTLRRRARVS
UniProt ID: Q32P28
Variant: G -> R at position 349-349
Variant annotation: in dbSNP:rs6700677
Protein function: Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts.
Reference sequence:
MAVRALKLLTTLLAVVAAASQAEVESEAGWGMVTPDLLFAEGTAAYARGDWPGVVLSMERALRSRAALRALRLRCRTQCAADFPWELDPDWSPSPAQASGAAALRDLSFFGGLLRRAACLRRCLGPPAAHSLSEEMELEFRKRSPYNYLQVAYFKINKLEKAVAAAHTFFVGNPEHMEMQQNLDYYQTMSGVKEADFKDLETQPHMQEFRLGVRLYSEEQPQEAVPHLEAALQEYFVAYEECRALCEGPYDYDGYNYLEYNADLFQAITDHYIQVLNCKQNCVTELASHPSREKPFEDFLPSHYNYLQFAYYNIGNYTQAVECAKTYLLFFPNDEVMNQNLAYYAAMLGEEHTRSIGPRESAKEYRQRSLLEKELLFFAYDVFGIPFVDPDSWTPEEVIPKRLQEKQKSERETAVRISQEIGNLMKEIETLVEEKTKESLDVSRLTREGGPLLYEGISLTMNSKLLNGSQRVVMDGVISDHECQELQRLTNVAATSGDGYRGQTSPHTPNEKFYGVTVFKALKLGQEGKVPLQSAHLYYNVTEKVRRIMESYFRLDTPLYFSYSHLVCRTAIEEVQAERKDDSHPVHVDNCILNAETLVCVKEPPAYTFRDYSAILYLNGDFDGGNFYFTELDAKTVTAEVQPQCGRAVGFSSGTENPHGVKAVTRGQRCAIALWFTLDPRHSERDRVQADDLVKMLFSPEEMDLSQEQPLDAQQGPPEPAQESLSGSESKPKDEL