sujigwak/NVAR huggingface dataset:
UniProt ID: P14199
Variant: S -> L at position 356-356
Variant annotation: in strain: BPL_6H, BPL_7C, BPL_11F and BPL_12A
Protein function: Required for selective autophagy activation by ubiquitinated proteins . Implicated in sigma rhabdovirus multiplication and necessary for male fertility. Involved in activating transcription of Drs .
Reference sequence:
MPEKLLKITYQGAGPQKKINAYLRMPSQNYTILRREIELYLFQERQLPKCDVRTFWIDADKDEIEIVNQNDYEIFLAKCESNMHVQVAPLAPVEEPKATKQEGSSANAEAPSVDDPSNFTIHDAVECDGCGLAPLIGFRYKCVQCSNYDLCQKCELAHKHPEHLMLRMPTNNGPGMVDAWFTGPGLGRRSGRRSRGHCPFQETNQADPAGEPARDSRRERRQARRHAGVLTQFVEMMTNLPLNTTTATAPAEPQKPKAAEQTESPPQAEPTVTAEKAAESEAKPTEPKKVNTDQSVPRTEDPVTTPRSTQPTTPVINLDNISQIVPPEYMSAGIEILNNFSEMFSKIIDTTEGGDSGIFAPSTTPSAENKKPEEQGQSSGQSGASSANQSAVPSAAPSANQSNVPSANQSATPSISGSIPDAQLETEPLNPKPSETTTETEQERRRSDSLDPEWQLIDNAYSANNSNLINLDTTNPTAAPQEPVRDFGQLGELLRQHMNEEARVEQASANTQTAQVDTVSTSTSTTSVTTNSVGTSPAAPDDKRTVPVYHTDESINKSIHAMMAMGFSNEGAWLTQLLESVQGNISAALDVMNVSQNRN
UniProt ID: P14199
Variant: Q -> E at position 389-389
Variant annotation: in strain: BPL_1C
Protein function: Required for selective autophagy activation by ubiquitinated proteins . Implicated in sigma rhabdovirus multiplication and necessary for male fertility. Involved in activating transcription of Drs .
Reference sequence:
MPEKLLKITYQGAGPQKKINAYLRMPSQNYTILRREIELYLFQERQLPKCDVRTFWIDADKDEIEIVNQNDYEIFLAKCESNMHVQVAPLAPVEEPKATKQEGSSANAEAPSVDDPSNFTIHDAVECDGCGLAPLIGFRYKCVQCSNYDLCQKCELAHKHPEHLMLRMPTNNGPGMVDAWFTGPGLGRRSGRRSRGHCPFQETNQADPAGEPARDSRRERRQARRHAGVLTQFVEMMTNLPLNTTTATAPAEPQKPKAAEQTESPPQAEPTVTAEKAAESEAKPTEPKKVNTDQSVPRTEDPVTTPRSTQPTTPVINLDNISQIVPPEYMSAGIEILNNFSEMFSKIIDTTEGGDSGIFAPSTTPSAENKKPEEQGQSSGQSGASSANQSAVPSAAPSANQSNVPSANQSATPSISGSIPDAQLETEPLNPKPSETTTETEQERRRSDSLDPEWQLIDNAYSANNSNLINLDTTNPTAAPQEPVRDFGQLGELLRQHMNEEARVEQASANTQTAQVDTVSTSTSTTSVTTNSVGTSPAAPDDKRTVPVYHTDESINKSIHAMMAMGFSNEGAWLTQLLESVQGNISAALDVMNVSQNRN
UniProt ID: P14199
Variant: P -> L at position 393-393
Variant annotation: in strain: BPL_1H, BPL_3H, BPL_4B, BPL_5E, BPL_7B, BPL_7H, BPL_8G, BPL_10H and BPL_13C
Protein function: Required for selective autophagy activation by ubiquitinated proteins . Implicated in sigma rhabdovirus multiplication and necessary for male fertility. Involved in activating transcription of Drs .
Reference sequence:
MPEKLLKITYQGAGPQKKINAYLRMPSQNYTILRREIELYLFQERQLPKCDVRTFWIDADKDEIEIVNQNDYEIFLAKCESNMHVQVAPLAPVEEPKATKQEGSSANAEAPSVDDPSNFTIHDAVECDGCGLAPLIGFRYKCVQCSNYDLCQKCELAHKHPEHLMLRMPTNNGPGMVDAWFTGPGLGRRSGRRSRGHCPFQETNQADPAGEPARDSRRERRQARRHAGVLTQFVEMMTNLPLNTTTATAPAEPQKPKAAEQTESPPQAEPTVTAEKAAESEAKPTEPKKVNTDQSVPRTEDPVTTPRSTQPTTPVINLDNISQIVPPEYMSAGIEILNNFSEMFSKIIDTTEGGDSGIFAPSTTPSAENKKPEEQGQSSGQSGASSANQSAVPSAAPSANQSNVPSANQSATPSISGSIPDAQLETEPLNPKPSETTTETEQERRRSDSLDPEWQLIDNAYSANNSNLINLDTTNPTAAPQEPVRDFGQLGELLRQHMNEEARVEQASANTQTAQVDTVSTSTSTTSVTTNSVGTSPAAPDDKRTVPVYHTDESINKSIHAMMAMGFSNEGAWLTQLLESVQGNISAALDVMNVSQNRN
UniProt ID: P14199
Variant: P -> S at position 397-397
Variant annotation: in strain: FrenchSlow
Protein function: Required for selective autophagy activation by ubiquitinated proteins . Implicated in sigma rhabdovirus multiplication and necessary for male fertility. Involved in activating transcription of Drs .
Reference sequence:
MPEKLLKITYQGAGPQKKINAYLRMPSQNYTILRREIELYLFQERQLPKCDVRTFWIDADKDEIEIVNQNDYEIFLAKCESNMHVQVAPLAPVEEPKATKQEGSSANAEAPSVDDPSNFTIHDAVECDGCGLAPLIGFRYKCVQCSNYDLCQKCELAHKHPEHLMLRMPTNNGPGMVDAWFTGPGLGRRSGRRSRGHCPFQETNQADPAGEPARDSRRERRQARRHAGVLTQFVEMMTNLPLNTTTATAPAEPQKPKAAEQTESPPQAEPTVTAEKAAESEAKPTEPKKVNTDQSVPRTEDPVTTPRSTQPTTPVINLDNISQIVPPEYMSAGIEILNNFSEMFSKIIDTTEGGDSGIFAPSTTPSAENKKPEEQGQSSGQSGASSANQSAVPSAAPSANQSNVPSANQSATPSISGSIPDAQLETEPLNPKPSETTTETEQERRRSDSLDPEWQLIDNAYSANNSNLINLDTTNPTAAPQEPVRDFGQLGELLRQHMNEEARVEQASANTQTAQVDTVSTSTSTTSVTTNSVGTSPAAPDDKRTVPVYHTDESINKSIHAMMAMGFSNEGAWLTQLLESVQGNISAALDVMNVSQNRN
UniProt ID: P14199
Variant: K -> M at position 432-432
Variant annotation: in strain: FrenchFast
Protein function: Required for selective autophagy activation by ubiquitinated proteins . Implicated in sigma rhabdovirus multiplication and necessary for male fertility. Involved in activating transcription of Drs .
Reference sequence:
MPEKLLKITYQGAGPQKKINAYLRMPSQNYTILRREIELYLFQERQLPKCDVRTFWIDADKDEIEIVNQNDYEIFLAKCESNMHVQVAPLAPVEEPKATKQEGSSANAEAPSVDDPSNFTIHDAVECDGCGLAPLIGFRYKCVQCSNYDLCQKCELAHKHPEHLMLRMPTNNGPGMVDAWFTGPGLGRRSGRRSRGHCPFQETNQADPAGEPARDSRRERRQARRHAGVLTQFVEMMTNLPLNTTTATAPAEPQKPKAAEQTESPPQAEPTVTAEKAAESEAKPTEPKKVNTDQSVPRTEDPVTTPRSTQPTTPVINLDNISQIVPPEYMSAGIEILNNFSEMFSKIIDTTEGGDSGIFAPSTTPSAENKKPEEQGQSSGQSGASSANQSAVPSAAPSANQSNVPSANQSATPSISGSIPDAQLETEPLNPKPSETTTETEQERRRSDSLDPEWQLIDNAYSANNSNLINLDTTNPTAAPQEPVRDFGQLGELLRQHMNEEARVEQASANTQTAQVDTVSTSTSTTSVTTNSVGTSPAAPDDKRTVPVYHTDESINKSIHAMMAMGFSNEGAWLTQLLESVQGNISAALDVMNVSQNRN
UniProt ID: P14199
Variant: R -> I at position 444-444
Variant annotation: in strain: BPL_3B and BPL_8F
Protein function: Required for selective autophagy activation by ubiquitinated proteins . Implicated in sigma rhabdovirus multiplication and necessary for male fertility. Involved in activating transcription of Drs .
Reference sequence:
MPEKLLKITYQGAGPQKKINAYLRMPSQNYTILRREIELYLFQERQLPKCDVRTFWIDADKDEIEIVNQNDYEIFLAKCESNMHVQVAPLAPVEEPKATKQEGSSANAEAPSVDDPSNFTIHDAVECDGCGLAPLIGFRYKCVQCSNYDLCQKCELAHKHPEHLMLRMPTNNGPGMVDAWFTGPGLGRRSGRRSRGHCPFQETNQADPAGEPARDSRRERRQARRHAGVLTQFVEMMTNLPLNTTTATAPAEPQKPKAAEQTESPPQAEPTVTAEKAAESEAKPTEPKKVNTDQSVPRTEDPVTTPRSTQPTTPVINLDNISQIVPPEYMSAGIEILNNFSEMFSKIIDTTEGGDSGIFAPSTTPSAENKKPEEQGQSSGQSGASSANQSAVPSAAPSANQSNVPSANQSATPSISGSIPDAQLETEPLNPKPSETTTETEQERRRSDSLDPEWQLIDNAYSANNSNLINLDTTNPTAAPQEPVRDFGQLGELLRQHMNEEARVEQASANTQTAQVDTVSTSTSTTSVTTNSVGTSPAAPDDKRTVPVYHTDESINKSIHAMMAMGFSNEGAWLTQLLESVQGNISAALDVMNVSQNRN
UniProt ID: P14199
Variant: D -> E at position 542-542
Variant annotation: in strain: AfricaSlow, AfricaFast, FloridaFast, Florida1Slow, Florida2Slow, FrenchSlow, JapanSlow, Paris and WashingtonFast
Protein function: Required for selective autophagy activation by ubiquitinated proteins . Implicated in sigma rhabdovirus multiplication and necessary for male fertility. Involved in activating transcription of Drs .
Reference sequence:
MPEKLLKITYQGAGPQKKINAYLRMPSQNYTILRREIELYLFQERQLPKCDVRTFWIDADKDEIEIVNQNDYEIFLAKCESNMHVQVAPLAPVEEPKATKQEGSSANAEAPSVDDPSNFTIHDAVECDGCGLAPLIGFRYKCVQCSNYDLCQKCELAHKHPEHLMLRMPTNNGPGMVDAWFTGPGLGRRSGRRSRGHCPFQETNQADPAGEPARDSRRERRQARRHAGVLTQFVEMMTNLPLNTTTATAPAEPQKPKAAEQTESPPQAEPTVTAEKAAESEAKPTEPKKVNTDQSVPRTEDPVTTPRSTQPTTPVINLDNISQIVPPEYMSAGIEILNNFSEMFSKIIDTTEGGDSGIFAPSTTPSAENKKPEEQGQSSGQSGASSANQSAVPSAAPSANQSNVPSANQSATPSISGSIPDAQLETEPLNPKPSETTTETEQERRRSDSLDPEWQLIDNAYSANNSNLINLDTTNPTAAPQEPVRDFGQLGELLRQHMNEEARVEQASANTQTAQVDTVSTSTSTTSVTTNSVGTSPAAPDDKRTVPVYHTDESINKSIHAMMAMGFSNEGAWLTQLLESVQGNISAALDVMNVSQNRN
UniProt ID: P14207
Variant: H -> N at position 236-236
Variant annotation: in a breast cancer sample; somatic mutation
Protein function: Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release.
Reference sequence:
MVWKWMPLLLLLVCVATMCSAQDRTDLLNVCMDAKHHKTKPGPEDKLHDQCSPWKKNACCTASTSQELHKDTSRLYNFNWDHCGKMEPACKRHFIQDTCLYECSPNLGPWIQQVNQSWRKERFLDVPLCKEDCQRWWEDCHTSHTCKSNWHRGWDWTSGVNKCPAGALCRTFESYFPTPAALCEGLWSHSYKVSNYSRGSGRCIQMWFDSAQGNPNEEVARFYAAAMHVNAGEMLHGTGGLLLSLALMLQLWLLG
UniProt ID: P14210
Variant: E -> K at position 304-304
Variant annotation: in dbSNP:rs5745687
Protein function: Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization.
Reference sequence:
MWVTKLLPALLLQHVLLHLLLLPIAIPYAEGQRKRRNTIHEFKKSAKTTLIKIDPALKIKTKKVNTADQCANRCTRNKGLPFTCKAFVFDKARKQCLWFPFNSMSSGVKKEFGHEFDLYENKDYIRNCIIGKGRSYKGTVSITKSGIKCQPWSSMIPHEHSFLPSSYRGKDLQENYCRNPRGEEGGPWCFTSNPEVRYEVCDIPQCSEVECMTCNGESYRGLMDHTESGKICQRWDHQTPHRHKFLPERYPDKGFDDNYCRNPDGQPRPWCYTLDPHTRWEYCAIKTCADNTMNDTDVPLETTECIQGQGEGYRGTVNTIWNGIPCQRWDSQYPHEHDMTPENFKCKDLRENYCRNPDGSESPWCFTTDPNIRVGYCSQIPNCDMSHGQDCYRGNGKNYMGNLSQTRSGLTCSMWDKNMEDLHRHIFWEPDASKLNENYCRNPDDDAHGPWCYTGNPLIPWDYCPISRCEGDTTPTIVNLDHPVISCAKTKQLRVVNGIPTRTNIGWMVSLRYRNKHICGGSLIKESWVLTARQCFPSRDLKDYEAWLGIHDVHGRGDEKCKQVLNVSQLVYGPEGSDLVLMKLARPAVLDDFVSTIDLPNYGCTIPEKTSCSVYGWGYTGLINYDGLLRVAHLYIMGNEKCSQHHRGKVTLNESEICAGAEKIGSGPCEGDYGGPLVCEQHKMRMVLGVIVPGRGCAIPNRPGIFVRVAYYAKWIHKIILTYKVPQS
UniProt ID: P14210
Variant: D -> Y at position 330-330
Variant annotation: in dbSNP:rs5745688
Protein function: Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization.
Reference sequence:
MWVTKLLPALLLQHVLLHLLLLPIAIPYAEGQRKRRNTIHEFKKSAKTTLIKIDPALKIKTKKVNTADQCANRCTRNKGLPFTCKAFVFDKARKQCLWFPFNSMSSGVKKEFGHEFDLYENKDYIRNCIIGKGRSYKGTVSITKSGIKCQPWSSMIPHEHSFLPSSYRGKDLQENYCRNPRGEEGGPWCFTSNPEVRYEVCDIPQCSEVECMTCNGESYRGLMDHTESGKICQRWDHQTPHRHKFLPERYPDKGFDDNYCRNPDGQPRPWCYTLDPHTRWEYCAIKTCADNTMNDTDVPLETTECIQGQGEGYRGTVNTIWNGIPCQRWDSQYPHEHDMTPENFKCKDLRENYCRNPDGSESPWCFTTDPNIRVGYCSQIPNCDMSHGQDCYRGNGKNYMGNLSQTRSGLTCSMWDKNMEDLHRHIFWEPDASKLNENYCRNPDDDAHGPWCYTGNPLIPWDYCPISRCEGDTTPTIVNLDHPVISCAKTKQLRVVNGIPTRTNIGWMVSLRYRNKHICGGSLIKESWVLTARQCFPSRDLKDYEAWLGIHDVHGRGDEKCKQVLNVSQLVYGPEGSDLVLMKLARPAVLDDFVSTIDLPNYGCTIPEKTSCSVYGWGYTGLINYDGLLRVAHLYIMGNEKCSQHHRGKVTLNESEICAGAEKIGSGPCEGDYGGPLVCEQHKMRMVLGVIVPGRGCAIPNRPGIFVRVAYYAKWIHKIILTYKVPQS
UniProt ID: P14242
Variant: N -> S at position 41-41
Variant annotation: in strain: SK1 and YJM421
Protein function: Required for DNA mismatch repair (MMR), correcting base-base mismatches and insertion-deletion loops (IDLs) resulting from DNA replication, DNA damage or from recombination events between non-identical sequences during meiosis. Component of the MutLalpha heterodimer that forms a ternary complex with the MutS heterodimers, which initially recognize the DNA mismatches. This complex is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Plays a major role in maintaining the genetic stability of simple sequence repeats and in the repair of heteroduplex sites present in meiotic recombination intermediates.
Reference sequence:
MTQIHQINDIDVHRITSGQVITDLTTAVKELVDNSIDANANQIEIIFKDYGLESIECSDNGDGIDPSNYEFLALKHYTSKIAKFQDVAKVQTLGFRGEALSSLCGIAKLSVITTTSPPKADKLEYDMVGHITSKTTTSRNKGTTVLVSQLFHNLPVRQKEFSKTFKRQFTKCLTVIQGYAIINAAIKFSVWNITPKGKKNLILSTMRNSSMRKNISSVFGAGGMRGLEEVDLVLDLNPFKNRMLGKYTDDPDFLDLDYKIRVKGYISQNSFGCGRNSKDRQFIYVNKRPVEYSTLLKCCNEVYKTFNNVQFPAVFLNLELPMSLIDVNVTPDKRVILLHNERAVIDIFKTTLSDYYNRQELALPKRMCSQSEQQAQKRLKTEVFDDRSTTHESDNENYHTARSESNQSNHAHFNSTTGVIDKSNGTELTSVMDGNYTNVTDVIGSECEVSVDSSVVLDEGNSSTPTKKLPSIKTDSQNLSDLNLNNFSNPEFQNITSPDKARSLEKVVEEPVYFDIDGEKFQEKAVLSQADGLVFVDNECHEHTNDCCHQERRGSTDTEQDDEADSIYAEIEPVEINVRTPLKNSRKSISKDNYRSLSDGLTHRKFEDEILEYNLSTKNFKEISKNGKQMSSIISKRKSEAQENIIKNKDELEDFEQGEKYLTLTVSKNDFKKMEVVGQFNLGFIIVTRKVDNKYDLFIVDQHASDEKYNFETLQAVTVFKSQKLIIPQPVELSVIDELVVLDNLPVFEKNGFKLKIDEEEEFGSRVKLLSLPTSKQTLFDLGDFNELIHLIKEDGGLRRDNIRCSKIRSMFAMRACRSSIMIGKPLNKKTMTRVVHNLSELDKPWNCPHGRPTMRHLMELRDWSSFSKDYEI
UniProt ID: P14242
Variant: I -> T at position 112-112
Variant annotation: in strain: SK1 and YJM421
Protein function: Required for DNA mismatch repair (MMR), correcting base-base mismatches and insertion-deletion loops (IDLs) resulting from DNA replication, DNA damage or from recombination events between non-identical sequences during meiosis. Component of the MutLalpha heterodimer that forms a ternary complex with the MutS heterodimers, which initially recognize the DNA mismatches. This complex is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Plays a major role in maintaining the genetic stability of simple sequence repeats and in the repair of heteroduplex sites present in meiotic recombination intermediates.
Reference sequence:
MTQIHQINDIDVHRITSGQVITDLTTAVKELVDNSIDANANQIEIIFKDYGLESIECSDNGDGIDPSNYEFLALKHYTSKIAKFQDVAKVQTLGFRGEALSSLCGIAKLSVITTTSPPKADKLEYDMVGHITSKTTTSRNKGTTVLVSQLFHNLPVRQKEFSKTFKRQFTKCLTVIQGYAIINAAIKFSVWNITPKGKKNLILSTMRNSSMRKNISSVFGAGGMRGLEEVDLVLDLNPFKNRMLGKYTDDPDFLDLDYKIRVKGYISQNSFGCGRNSKDRQFIYVNKRPVEYSTLLKCCNEVYKTFNNVQFPAVFLNLELPMSLIDVNVTPDKRVILLHNERAVIDIFKTTLSDYYNRQELALPKRMCSQSEQQAQKRLKTEVFDDRSTTHESDNENYHTARSESNQSNHAHFNSTTGVIDKSNGTELTSVMDGNYTNVTDVIGSECEVSVDSSVVLDEGNSSTPTKKLPSIKTDSQNLSDLNLNNFSNPEFQNITSPDKARSLEKVVEEPVYFDIDGEKFQEKAVLSQADGLVFVDNECHEHTNDCCHQERRGSTDTEQDDEADSIYAEIEPVEINVRTPLKNSRKSISKDNYRSLSDGLTHRKFEDEILEYNLSTKNFKEISKNGKQMSSIISKRKSEAQENIIKNKDELEDFEQGEKYLTLTVSKNDFKKMEVVGQFNLGFIIVTRKVDNKYDLFIVDQHASDEKYNFETLQAVTVFKSQKLIIPQPVELSVIDELVVLDNLPVFEKNGFKLKIDEEEEFGSRVKLLSLPTSKQTLFDLGDFNELIHLIKEDGGLRRDNIRCSKIRSMFAMRACRSSIMIGKPLNKKTMTRVVHNLSELDKPWNCPHGRPTMRHLMELRDWSSFSKDYEI
UniProt ID: P14242
Variant: F -> V at position 384-384
Variant annotation: in strain: SK1, YJM320, YJM339 and YJM421
Protein function: Required for DNA mismatch repair (MMR), correcting base-base mismatches and insertion-deletion loops (IDLs) resulting from DNA replication, DNA damage or from recombination events between non-identical sequences during meiosis. Component of the MutLalpha heterodimer that forms a ternary complex with the MutS heterodimers, which initially recognize the DNA mismatches. This complex is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Plays a major role in maintaining the genetic stability of simple sequence repeats and in the repair of heteroduplex sites present in meiotic recombination intermediates.
Reference sequence:
MTQIHQINDIDVHRITSGQVITDLTTAVKELVDNSIDANANQIEIIFKDYGLESIECSDNGDGIDPSNYEFLALKHYTSKIAKFQDVAKVQTLGFRGEALSSLCGIAKLSVITTTSPPKADKLEYDMVGHITSKTTTSRNKGTTVLVSQLFHNLPVRQKEFSKTFKRQFTKCLTVIQGYAIINAAIKFSVWNITPKGKKNLILSTMRNSSMRKNISSVFGAGGMRGLEEVDLVLDLNPFKNRMLGKYTDDPDFLDLDYKIRVKGYISQNSFGCGRNSKDRQFIYVNKRPVEYSTLLKCCNEVYKTFNNVQFPAVFLNLELPMSLIDVNVTPDKRVILLHNERAVIDIFKTTLSDYYNRQELALPKRMCSQSEQQAQKRLKTEVFDDRSTTHESDNENYHTARSESNQSNHAHFNSTTGVIDKSNGTELTSVMDGNYTNVTDVIGSECEVSVDSSVVLDEGNSSTPTKKLPSIKTDSQNLSDLNLNNFSNPEFQNITSPDKARSLEKVVEEPVYFDIDGEKFQEKAVLSQADGLVFVDNECHEHTNDCCHQERRGSTDTEQDDEADSIYAEIEPVEINVRTPLKNSRKSISKDNYRSLSDGLTHRKFEDEILEYNLSTKNFKEISKNGKQMSSIISKRKSEAQENIIKNKDELEDFEQGEKYLTLTVSKNDFKKMEVVGQFNLGFIIVTRKVDNKYDLFIVDQHASDEKYNFETLQAVTVFKSQKLIIPQPVELSVIDELVVLDNLPVFEKNGFKLKIDEEEEFGSRVKLLSLPTSKQTLFDLGDFNELIHLIKEDGGLRRDNIRCSKIRSMFAMRACRSSIMIGKPLNKKTMTRVVHNLSELDKPWNCPHGRPTMRHLMELRDWSSFSKDYEI
UniProt ID: P14242
Variant: E -> V at position 392-392
Variant annotation: in strain: YJM320
Protein function: Required for DNA mismatch repair (MMR), correcting base-base mismatches and insertion-deletion loops (IDLs) resulting from DNA replication, DNA damage or from recombination events between non-identical sequences during meiosis. Component of the MutLalpha heterodimer that forms a ternary complex with the MutS heterodimers, which initially recognize the DNA mismatches. This complex is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Plays a major role in maintaining the genetic stability of simple sequence repeats and in the repair of heteroduplex sites present in meiotic recombination intermediates.
Reference sequence:
MTQIHQINDIDVHRITSGQVITDLTTAVKELVDNSIDANANQIEIIFKDYGLESIECSDNGDGIDPSNYEFLALKHYTSKIAKFQDVAKVQTLGFRGEALSSLCGIAKLSVITTTSPPKADKLEYDMVGHITSKTTTSRNKGTTVLVSQLFHNLPVRQKEFSKTFKRQFTKCLTVIQGYAIINAAIKFSVWNITPKGKKNLILSTMRNSSMRKNISSVFGAGGMRGLEEVDLVLDLNPFKNRMLGKYTDDPDFLDLDYKIRVKGYISQNSFGCGRNSKDRQFIYVNKRPVEYSTLLKCCNEVYKTFNNVQFPAVFLNLELPMSLIDVNVTPDKRVILLHNERAVIDIFKTTLSDYYNRQELALPKRMCSQSEQQAQKRLKTEVFDDRSTTHESDNENYHTARSESNQSNHAHFNSTTGVIDKSNGTELTSVMDGNYTNVTDVIGSECEVSVDSSVVLDEGNSSTPTKKLPSIKTDSQNLSDLNLNNFSNPEFQNITSPDKARSLEKVVEEPVYFDIDGEKFQEKAVLSQADGLVFVDNECHEHTNDCCHQERRGSTDTEQDDEADSIYAEIEPVEINVRTPLKNSRKSISKDNYRSLSDGLTHRKFEDEILEYNLSTKNFKEISKNGKQMSSIISKRKSEAQENIIKNKDELEDFEQGEKYLTLTVSKNDFKKMEVVGQFNLGFIIVTRKVDNKYDLFIVDQHASDEKYNFETLQAVTVFKSQKLIIPQPVELSVIDELVVLDNLPVFEKNGFKLKIDEEEEFGSRVKLLSLPTSKQTLFDLGDFNELIHLIKEDGGLRRDNIRCSKIRSMFAMRACRSSIMIGKPLNKKTMTRVVHNLSELDKPWNCPHGRPTMRHLMELRDWSSFSKDYEI
UniProt ID: P14242
Variant: T -> S at position 400-400
Variant annotation: in strain: SK1, YJM320, YJM339 and YJM421
Protein function: Required for DNA mismatch repair (MMR), correcting base-base mismatches and insertion-deletion loops (IDLs) resulting from DNA replication, DNA damage or from recombination events between non-identical sequences during meiosis. Component of the MutLalpha heterodimer that forms a ternary complex with the MutS heterodimers, which initially recognize the DNA mismatches. This complex is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Plays a major role in maintaining the genetic stability of simple sequence repeats and in the repair of heteroduplex sites present in meiotic recombination intermediates.
Reference sequence:
MTQIHQINDIDVHRITSGQVITDLTTAVKELVDNSIDANANQIEIIFKDYGLESIECSDNGDGIDPSNYEFLALKHYTSKIAKFQDVAKVQTLGFRGEALSSLCGIAKLSVITTTSPPKADKLEYDMVGHITSKTTTSRNKGTTVLVSQLFHNLPVRQKEFSKTFKRQFTKCLTVIQGYAIINAAIKFSVWNITPKGKKNLILSTMRNSSMRKNISSVFGAGGMRGLEEVDLVLDLNPFKNRMLGKYTDDPDFLDLDYKIRVKGYISQNSFGCGRNSKDRQFIYVNKRPVEYSTLLKCCNEVYKTFNNVQFPAVFLNLELPMSLIDVNVTPDKRVILLHNERAVIDIFKTTLSDYYNRQELALPKRMCSQSEQQAQKRLKTEVFDDRSTTHESDNENYHTARSESNQSNHAHFNSTTGVIDKSNGTELTSVMDGNYTNVTDVIGSECEVSVDSSVVLDEGNSSTPTKKLPSIKTDSQNLSDLNLNNFSNPEFQNITSPDKARSLEKVVEEPVYFDIDGEKFQEKAVLSQADGLVFVDNECHEHTNDCCHQERRGSTDTEQDDEADSIYAEIEPVEINVRTPLKNSRKSISKDNYRSLSDGLTHRKFEDEILEYNLSTKNFKEISKNGKQMSSIISKRKSEAQENIIKNKDELEDFEQGEKYLTLTVSKNDFKKMEVVGQFNLGFIIVTRKVDNKYDLFIVDQHASDEKYNFETLQAVTVFKSQKLIIPQPVELSVIDELVVLDNLPVFEKNGFKLKIDEEEEFGSRVKLLSLPTSKQTLFDLGDFNELIHLIKEDGGLRRDNIRCSKIRSMFAMRACRSSIMIGKPLNKKTMTRVVHNLSELDKPWNCPHGRPTMRHLMELRDWSSFSKDYEI
UniProt ID: P14242
Variant: A -> S at position 401-401
Variant annotation: in strain: YJM320 and YJM421
Protein function: Required for DNA mismatch repair (MMR), correcting base-base mismatches and insertion-deletion loops (IDLs) resulting from DNA replication, DNA damage or from recombination events between non-identical sequences during meiosis. Component of the MutLalpha heterodimer that forms a ternary complex with the MutS heterodimers, which initially recognize the DNA mismatches. This complex is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Plays a major role in maintaining the genetic stability of simple sequence repeats and in the repair of heteroduplex sites present in meiotic recombination intermediates.
Reference sequence:
MTQIHQINDIDVHRITSGQVITDLTTAVKELVDNSIDANANQIEIIFKDYGLESIECSDNGDGIDPSNYEFLALKHYTSKIAKFQDVAKVQTLGFRGEALSSLCGIAKLSVITTTSPPKADKLEYDMVGHITSKTTTSRNKGTTVLVSQLFHNLPVRQKEFSKTFKRQFTKCLTVIQGYAIINAAIKFSVWNITPKGKKNLILSTMRNSSMRKNISSVFGAGGMRGLEEVDLVLDLNPFKNRMLGKYTDDPDFLDLDYKIRVKGYISQNSFGCGRNSKDRQFIYVNKRPVEYSTLLKCCNEVYKTFNNVQFPAVFLNLELPMSLIDVNVTPDKRVILLHNERAVIDIFKTTLSDYYNRQELALPKRMCSQSEQQAQKRLKTEVFDDRSTTHESDNENYHTARSESNQSNHAHFNSTTGVIDKSNGTELTSVMDGNYTNVTDVIGSECEVSVDSSVVLDEGNSSTPTKKLPSIKTDSQNLSDLNLNNFSNPEFQNITSPDKARSLEKVVEEPVYFDIDGEKFQEKAVLSQADGLVFVDNECHEHTNDCCHQERRGSTDTEQDDEADSIYAEIEPVEINVRTPLKNSRKSISKDNYRSLSDGLTHRKFEDEILEYNLSTKNFKEISKNGKQMSSIISKRKSEAQENIIKNKDELEDFEQGEKYLTLTVSKNDFKKMEVVGQFNLGFIIVTRKVDNKYDLFIVDQHASDEKYNFETLQAVTVFKSQKLIIPQPVELSVIDELVVLDNLPVFEKNGFKLKIDEEEEFGSRVKLLSLPTSKQTLFDLGDFNELIHLIKEDGGLRRDNIRCSKIRSMFAMRACRSSIMIGKPLNKKTMTRVVHNLSELDKPWNCPHGRPTMRHLMELRDWSSFSKDYEI
UniProt ID: P14242
Variant: T -> TCEGT at position 416-416
Variant annotation: in strain: SK1, YJM320, YJM339 and YJM421
Protein function: Required for DNA mismatch repair (MMR), correcting base-base mismatches and insertion-deletion loops (IDLs) resulting from DNA replication, DNA damage or from recombination events between non-identical sequences during meiosis. Component of the MutLalpha heterodimer that forms a ternary complex with the MutS heterodimers, which initially recognize the DNA mismatches. This complex is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Plays a major role in maintaining the genetic stability of simple sequence repeats and in the repair of heteroduplex sites present in meiotic recombination intermediates.
Reference sequence:
MTQIHQINDIDVHRITSGQVITDLTTAVKELVDNSIDANANQIEIIFKDYGLESIECSDNGDGIDPSNYEFLALKHYTSKIAKFQDVAKVQTLGFRGEALSSLCGIAKLSVITTTSPPKADKLEYDMVGHITSKTTTSRNKGTTVLVSQLFHNLPVRQKEFSKTFKRQFTKCLTVIQGYAIINAAIKFSVWNITPKGKKNLILSTMRNSSMRKNISSVFGAGGMRGLEEVDLVLDLNPFKNRMLGKYTDDPDFLDLDYKIRVKGYISQNSFGCGRNSKDRQFIYVNKRPVEYSTLLKCCNEVYKTFNNVQFPAVFLNLELPMSLIDVNVTPDKRVILLHNERAVIDIFKTTLSDYYNRQELALPKRMCSQSEQQAQKRLKTEVFDDRSTTHESDNENYHTARSESNQSNHAHFNSTTGVIDKSNGTELTSVMDGNYTNVTDVIGSECEVSVDSSVVLDEGNSSTPTKKLPSIKTDSQNLSDLNLNNFSNPEFQNITSPDKARSLEKVVEEPVYFDIDGEKFQEKAVLSQADGLVFVDNECHEHTNDCCHQERRGSTDTEQDDEADSIYAEIEPVEINVRTPLKNSRKSISKDNYRSLSDGLTHRKFEDEILEYNLSTKNFKEISKNGKQMSSIISKRKSEAQENIIKNKDELEDFEQGEKYLTLTVSKNDFKKMEVVGQFNLGFIIVTRKVDNKYDLFIVDQHASDEKYNFETLQAVTVFKSQKLIIPQPVELSVIDELVVLDNLPVFEKNGFKLKIDEEEEFGSRVKLLSLPTSKQTLFDLGDFNELIHLIKEDGGLRRDNIRCSKIRSMFAMRACRSSIMIGKPLNKKTMTRVVHNLSELDKPWNCPHGRPTMRHLMELRDWSSFSKDYEI
UniProt ID: P14242
Variant: D -> Y at position 458-458
Variant annotation: in strain: EAY1068
Protein function: Required for DNA mismatch repair (MMR), correcting base-base mismatches and insertion-deletion loops (IDLs) resulting from DNA replication, DNA damage or from recombination events between non-identical sequences during meiosis. Component of the MutLalpha heterodimer that forms a ternary complex with the MutS heterodimers, which initially recognize the DNA mismatches. This complex is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Plays a major role in maintaining the genetic stability of simple sequence repeats and in the repair of heteroduplex sites present in meiotic recombination intermediates.
Reference sequence:
MTQIHQINDIDVHRITSGQVITDLTTAVKELVDNSIDANANQIEIIFKDYGLESIECSDNGDGIDPSNYEFLALKHYTSKIAKFQDVAKVQTLGFRGEALSSLCGIAKLSVITTTSPPKADKLEYDMVGHITSKTTTSRNKGTTVLVSQLFHNLPVRQKEFSKTFKRQFTKCLTVIQGYAIINAAIKFSVWNITPKGKKNLILSTMRNSSMRKNISSVFGAGGMRGLEEVDLVLDLNPFKNRMLGKYTDDPDFLDLDYKIRVKGYISQNSFGCGRNSKDRQFIYVNKRPVEYSTLLKCCNEVYKTFNNVQFPAVFLNLELPMSLIDVNVTPDKRVILLHNERAVIDIFKTTLSDYYNRQELALPKRMCSQSEQQAQKRLKTEVFDDRSTTHESDNENYHTARSESNQSNHAHFNSTTGVIDKSNGTELTSVMDGNYTNVTDVIGSECEVSVDSSVVLDEGNSSTPTKKLPSIKTDSQNLSDLNLNNFSNPEFQNITSPDKARSLEKVVEEPVYFDIDGEKFQEKAVLSQADGLVFVDNECHEHTNDCCHQERRGSTDTEQDDEADSIYAEIEPVEINVRTPLKNSRKSISKDNYRSLSDGLTHRKFEDEILEYNLSTKNFKEISKNGKQMSSIISKRKSEAQENIIKNKDELEDFEQGEKYLTLTVSKNDFKKMEVVGQFNLGFIIVTRKVDNKYDLFIVDQHASDEKYNFETLQAVTVFKSQKLIIPQPVELSVIDELVVLDNLPVFEKNGFKLKIDEEEEFGSRVKLLSLPTSKQTLFDLGDFNELIHLIKEDGGLRRDNIRCSKIRSMFAMRACRSSIMIGKPLNKKTMTRVVHNLSELDKPWNCPHGRPTMRHLMELRDWSSFSKDYEI