sujigwak/NVAR huggingface dataset:
UniProt ID: Q9VYY3
Variant: L -> I at position 309-309
Variant annotation: in strain: ZBMEL84, ZBMEL384 and ZBMEL398
Protein function: E1-like enzyme which activates UFM1.
Reference sequence:
MSHAIDELQAIIADLKTELETEPKSSGGVASNSRLARDRIDRMSAEVVDSNPYSRLMALQRMNIVKDYERIRYKAVAIVGVGGVGSVTADMLTRCGIGKLILFDYDKVELANMNRLFFTPDQAGLSKVAAAAATLSFINPDVEIETHNYNITTVENFDRFLDTISQGGRIAGQPVDLVLSCVDNFEARMAINAACNERNLNWFESGVSENAVSGHIQFIRPGDTACFACAPPLVVAENIDEKTLKREGVCAASLPTTMGITAGFLVQNALKYLLNFGEVSDYLGYNALSDFFPKMTLKPNPQCDDRNCLVRQKEFQARPKPVLIEEKAVSEEPLHATNEWGIELVAEDAPESNTTPAETPVMGEGLRLAYEAPEKSSETSEETVSAATADETSLEDLMAQMKSM
UniProt ID: Q9VYY3
Variant: E -> K at position 325-325
Variant annotation: in strain: MEL18
Protein function: E1-like enzyme which activates UFM1.
Reference sequence:
MSHAIDELQAIIADLKTELETEPKSSGGVASNSRLARDRIDRMSAEVVDSNPYSRLMALQRMNIVKDYERIRYKAVAIVGVGGVGSVTADMLTRCGIGKLILFDYDKVELANMNRLFFTPDQAGLSKVAAAAATLSFINPDVEIETHNYNITTVENFDRFLDTISQGGRIAGQPVDLVLSCVDNFEARMAINAACNERNLNWFESGVSENAVSGHIQFIRPGDTACFACAPPLVVAENIDEKTLKREGVCAASLPTTMGITAGFLVQNALKYLLNFGEVSDYLGYNALSDFFPKMTLKPNPQCDDRNCLVRQKEFQARPKPVLIEEKAVSEEPLHATNEWGIELVAEDAPESNTTPAETPVMGEGLRLAYEAPEKSSETSEETVSAATADETSLEDLMAQMKSM
UniProt ID: Q9VYY3
Variant: P -> S at position 333-333
Variant annotation: in strain: ZBMEL384
Protein function: E1-like enzyme which activates UFM1.
Reference sequence:
MSHAIDELQAIIADLKTELETEPKSSGGVASNSRLARDRIDRMSAEVVDSNPYSRLMALQRMNIVKDYERIRYKAVAIVGVGGVGSVTADMLTRCGIGKLILFDYDKVELANMNRLFFTPDQAGLSKVAAAAATLSFINPDVEIETHNYNITTVENFDRFLDTISQGGRIAGQPVDLVLSCVDNFEARMAINAACNERNLNWFESGVSENAVSGHIQFIRPGDTACFACAPPLVVAENIDEKTLKREGVCAASLPTTMGITAGFLVQNALKYLLNFGEVSDYLGYNALSDFFPKMTLKPNPQCDDRNCLVRQKEFQARPKPVLIEEKAVSEEPLHATNEWGIELVAEDAPESNTTPAETPVMGEGLRLAYEAPEKSSETSEETVSAATADETSLEDLMAQMKSM
UniProt ID: Q9VYY3
Variant: H -> R at position 335-335
Variant annotation: in strain: ZBMEL186
Protein function: E1-like enzyme which activates UFM1.
Reference sequence:
MSHAIDELQAIIADLKTELETEPKSSGGVASNSRLARDRIDRMSAEVVDSNPYSRLMALQRMNIVKDYERIRYKAVAIVGVGGVGSVTADMLTRCGIGKLILFDYDKVELANMNRLFFTPDQAGLSKVAAAAATLSFINPDVEIETHNYNITTVENFDRFLDTISQGGRIAGQPVDLVLSCVDNFEARMAINAACNERNLNWFESGVSENAVSGHIQFIRPGDTACFACAPPLVVAENIDEKTLKREGVCAASLPTTMGITAGFLVQNALKYLLNFGEVSDYLGYNALSDFFPKMTLKPNPQCDDRNCLVRQKEFQARPKPVLIEEKAVSEEPLHATNEWGIELVAEDAPESNTTPAETPVMGEGLRLAYEAPEKSSETSEETVSAATADETSLEDLMAQMKSM
UniProt ID: Q9VYY3
Variant: E -> Q at position 364-364
Variant annotation: in strain: MEL17
Protein function: E1-like enzyme which activates UFM1.
Reference sequence:
MSHAIDELQAIIADLKTELETEPKSSGGVASNSRLARDRIDRMSAEVVDSNPYSRLMALQRMNIVKDYERIRYKAVAIVGVGGVGSVTADMLTRCGIGKLILFDYDKVELANMNRLFFTPDQAGLSKVAAAAATLSFINPDVEIETHNYNITTVENFDRFLDTISQGGRIAGQPVDLVLSCVDNFEARMAINAACNERNLNWFESGVSENAVSGHIQFIRPGDTACFACAPPLVVAENIDEKTLKREGVCAASLPTTMGITAGFLVQNALKYLLNFGEVSDYLGYNALSDFFPKMTLKPNPQCDDRNCLVRQKEFQARPKPVLIEEKAVSEEPLHATNEWGIELVAEDAPESNTTPAETPVMGEGLRLAYEAPEKSSETSEETVSAATADETSLEDLMAQMKSM
UniProt ID: Q9VYY3
Variant: S -> T at position 385-385
Variant annotation: in strain: ZBMEL186 and ZBMEL384
Protein function: E1-like enzyme which activates UFM1.
Reference sequence:
MSHAIDELQAIIADLKTELETEPKSSGGVASNSRLARDRIDRMSAEVVDSNPYSRLMALQRMNIVKDYERIRYKAVAIVGVGGVGSVTADMLTRCGIGKLILFDYDKVELANMNRLFFTPDQAGLSKVAAAAATLSFINPDVEIETHNYNITTVENFDRFLDTISQGGRIAGQPVDLVLSCVDNFEARMAINAACNERNLNWFESGVSENAVSGHIQFIRPGDTACFACAPPLVVAENIDEKTLKREGVCAASLPTTMGITAGFLVQNALKYLLNFGEVSDYLGYNALSDFFPKMTLKPNPQCDDRNCLVRQKEFQARPKPVLIEEKAVSEEPLHATNEWGIELVAEDAPESNTTPAETPVMGEGLRLAYEAPEKSSETSEETVSAATADETSLEDLMAQMKSM
UniProt ID: Q9W157
Variant: E -> K at position 242-242
Variant annotation: in strain: Zimbabwe30
Protein function: Involved in and required for double-strand break repair by meiotic and mitotic homologous recombination. During meiosis, has a dual role in the repair of meiotic double-stranded breaks and the efficient activation of the meiotic recombination checkpoint.
Reference sequence:
MDQNGASGSHPNRLSQGRGAHARERGATVSAAANRSNIIDEMAKICEADRQTFAIARRTRGHERLAVDNSDFVAVEDLILSYAEPTPEDQVEMIMSDFCSSPTYAEDEDEPSHESEPWFRFRNKRIRTYSRKRDPKSHKAVQNEKRRGSSGLSVQRDLNTSFTSMACDFDASSQKIHEVLLNLSQYFSATATASGPTPVPSQIDLPTEARQDSGDECFNAELENLRDDLLQSGFTFEASFYENEHEQEGPGTMADTIYGDSMQSVPTTRLRLESGKRNVWSDADSTLKKADVEIAENKKLLMGQTQAKNVDIEENTNFILEGIPLSEWLTPMELPEISKDVIKHIPDKKLKLEPSSQKEQKSSKDSNASKVRGASKQSCDINTKNEGTTILDQPNAAEQENLLNDGELLEEFLFNDWQPMQCSNGPSTSKNAIQGPKENINSINLDDKEQPEKQTPNKSQTISSHQLNGIRKKSFKFIEVSEEMKIKGEEFVDKVVSGLYHFSHKCNLRTEEYSDNHSQVMESTQCAEFKSAPSKPIEILDGKETYNAIAKVDVGEINGKFSPLNNDTIAEPEFCGFRTASNKAIPISEKMKIKTAEFMAEFQSKETIQQNDYLVHQPNDKPTSVGLDTALKRSIESSEEMRSKASKLVVVDTTMREPHQPTLDPVCRDLNESQFFGFRTASNKAIEITEAMEKRGAMFLAQSKATDQLNGWQPSDFPDVLPTSPNNEIHSINVENNKAVNTKTVSETEFFGFRTASNKGIVISENTKIKVAQFMSEFQAADASTDSNQPTVISEESRNIDAKFVDEAAAEDSANKPTFCNVQSLKNTSDIEHFKHDFFVEHSAKEEHPLCSQPLVRTPRRSQEIHSSLSQLAGKSPLDQATKKSVIARRNLLSLKRKRKIILSTETSTSCALPTMERFAPKPSSTSTPLADRDLNRSKDCTKNRQDAEDMSPICMQPKKSRRLGLSRSRY
UniProt ID: Q9W252
Variant: E -> D at position 208-208
Variant annotation: in strain: NC335, NC362 and NC390
Protein function: Essential component of the MRN complex, a complex that possesses single-stranded DNA endonuclease and 3' to 5' exonuclease activities, and plays a central role in double-strand break (DSB) repair. The complex participates in processes such as DNA recombination, DNA repair, genome stability, telomere integrity and meiosis. The MRN complex may protect telomeres by facilitating recruitment of HOAP and HP1 at chromosome ends. In the complex, it mediates the ATP-binding and is probably required to bind DNA ends and hold them in close proximity.
Reference sequence:
MSSIESLSIQGIRSFGTYADDLQSIKFSSPVTLILGENGCGKTTVVECLKYALTGECPPGSDRGKSFVHDPKIFGLNEVLAQIKMQVRDRRGAQVSICRTMKVSKKRNKMSFETMDSTINFLTGAGQSKREKQDSLSGRSVDIDVAISDFMGVSKAIINNVLFCHQEDSSWPLDESKKLKEKFDAIFGITEYNKALDKIIKLRKEAMEELKIKEANIKHVAYLKQEMEVKTLNLQKAQRKCDAIKAQCSECEEEMKPIEARLVEIRNVEFEIGKYQAQKVEMDTKHKNCKDQISTLTLKIKKPFRGTLDELDQEISNFDQRMLEMRQKRTEVEGDLSQIKRSSVAEQEKLGTQDRKHCLAKQRHQSELACRAQLLKRVKEFCRELHIPIDCDLVEQPEKMGEVLRDIEAMIITKHCEITEIVEQNEKADRSRQVKIDELRIELTKSEQSVTAQEKQRESSKRESETLGVEIKKIETSMQDLKKLEKEINEVNELYESATKNIDQQAIKDAIARKKASIAENQIQFKKLDEQLTFLGSMAKLVAECSLKQKELDKKNQEVHRVRSRHSDHFGKLFKEPITCNYRRSMQVVYEKLRREIQELNEKANTQKLKEQSYEIKRKNLISDISRMEKELKDSEELIYQKCRSTPYDDLLERSKTTISKLQFDHGALKSSEALYKKYIQKMDEEPSCPLCHHNMTSDEACDLTSELTDEIQKLPDNITRAEKALKAEQIKYENLLQLKPTILKVKELKDSLPQKKEELKKVEELLGDSVSEYETLIALIGEPTHNMELANSMMGDMSLLDEALKDSARLTKDLDLQKGQLPASYDSSVSMDDLQAEKSKVSKELETERKELESAQNAVQQQMDALNRLREKKNSLKDRQIHLREGLQSLPQLKERLEKLNSFLTTVASEISELKAKIQPLKLNLRAAIEEKERLKKSESEKLAQLNSKYNSYKSTDHDIQRLNKEAEDYAKLDLRNEIKKLDEIIMASKDKLRKLEAEISLKTDELETIKTECSNQQTVERDLKDNRELKQLEDKEAKLRESCQVLDKQLGNLDFHSVSKEKVNLTKQRDKATVRKGELLGQLGEIHSQVNKLQREIDEPRFKESLKNFRKANYEIEVTRLCIEDLGQYRLALEWALIQFHSEKMEMINRLIREYWRKIYRGNDIDYIQVKTDEVSSDASADRRKTYNYRVVQSKNYSEIEMRGRCSAGQRVLASLIIRLALAETFSSNCGVLALDEPTTNLDRANINSLCEALNCIVEERQSQSNFMLIIITHDENFVSSLGKITSYHRVFRNEECKSVIRRVEAGPSKKALIDQ
UniProt ID: Q9W252
Variant: H -> V at position 219-219
Variant annotation: in strain: NC335, NC362 and NC390
Protein function: Essential component of the MRN complex, a complex that possesses single-stranded DNA endonuclease and 3' to 5' exonuclease activities, and plays a central role in double-strand break (DSB) repair. The complex participates in processes such as DNA recombination, DNA repair, genome stability, telomere integrity and meiosis. The MRN complex may protect telomeres by facilitating recruitment of HOAP and HP1 at chromosome ends. In the complex, it mediates the ATP-binding and is probably required to bind DNA ends and hold them in close proximity.
Reference sequence:
MSSIESLSIQGIRSFGTYADDLQSIKFSSPVTLILGENGCGKTTVVECLKYALTGECPPGSDRGKSFVHDPKIFGLNEVLAQIKMQVRDRRGAQVSICRTMKVSKKRNKMSFETMDSTINFLTGAGQSKREKQDSLSGRSVDIDVAISDFMGVSKAIINNVLFCHQEDSSWPLDESKKLKEKFDAIFGITEYNKALDKIIKLRKEAMEELKIKEANIKHVAYLKQEMEVKTLNLQKAQRKCDAIKAQCSECEEEMKPIEARLVEIRNVEFEIGKYQAQKVEMDTKHKNCKDQISTLTLKIKKPFRGTLDELDQEISNFDQRMLEMRQKRTEVEGDLSQIKRSSVAEQEKLGTQDRKHCLAKQRHQSELACRAQLLKRVKEFCRELHIPIDCDLVEQPEKMGEVLRDIEAMIITKHCEITEIVEQNEKADRSRQVKIDELRIELTKSEQSVTAQEKQRESSKRESETLGVEIKKIETSMQDLKKLEKEINEVNELYESATKNIDQQAIKDAIARKKASIAENQIQFKKLDEQLTFLGSMAKLVAECSLKQKELDKKNQEVHRVRSRHSDHFGKLFKEPITCNYRRSMQVVYEKLRREIQELNEKANTQKLKEQSYEIKRKNLISDISRMEKELKDSEELIYQKCRSTPYDDLLERSKTTISKLQFDHGALKSSEALYKKYIQKMDEEPSCPLCHHNMTSDEACDLTSELTDEIQKLPDNITRAEKALKAEQIKYENLLQLKPTILKVKELKDSLPQKKEELKKVEELLGDSVSEYETLIALIGEPTHNMELANSMMGDMSLLDEALKDSARLTKDLDLQKGQLPASYDSSVSMDDLQAEKSKVSKELETERKELESAQNAVQQQMDALNRLREKKNSLKDRQIHLREGLQSLPQLKERLEKLNSFLTTVASEISELKAKIQPLKLNLRAAIEEKERLKKSESEKLAQLNSKYNSYKSTDHDIQRLNKEAEDYAKLDLRNEIKKLDEIIMASKDKLRKLEAEISLKTDELETIKTECSNQQTVERDLKDNRELKQLEDKEAKLRESCQVLDKQLGNLDFHSVSKEKVNLTKQRDKATVRKGELLGQLGEIHSQVNKLQREIDEPRFKESLKNFRKANYEIEVTRLCIEDLGQYRLALEWALIQFHSEKMEMINRLIREYWRKIYRGNDIDYIQVKTDEVSSDASADRRKTYNYRVVQSKNYSEIEMRGRCSAGQRVLASLIIRLALAETFSSNCGVLALDEPTTNLDRANINSLCEALNCIVEERQSQSNFMLIIITHDENFVSSLGKITSYHRVFRNEECKSVIRRVEAGPSKKALIDQ
UniProt ID: Q9W252
Variant: V -> E at position 220-220
Variant annotation: in strain: NC335, NC362 and NC390
Protein function: Essential component of the MRN complex, a complex that possesses single-stranded DNA endonuclease and 3' to 5' exonuclease activities, and plays a central role in double-strand break (DSB) repair. The complex participates in processes such as DNA recombination, DNA repair, genome stability, telomere integrity and meiosis. The MRN complex may protect telomeres by facilitating recruitment of HOAP and HP1 at chromosome ends. In the complex, it mediates the ATP-binding and is probably required to bind DNA ends and hold them in close proximity.
Reference sequence:
MSSIESLSIQGIRSFGTYADDLQSIKFSSPVTLILGENGCGKTTVVECLKYALTGECPPGSDRGKSFVHDPKIFGLNEVLAQIKMQVRDRRGAQVSICRTMKVSKKRNKMSFETMDSTINFLTGAGQSKREKQDSLSGRSVDIDVAISDFMGVSKAIINNVLFCHQEDSSWPLDESKKLKEKFDAIFGITEYNKALDKIIKLRKEAMEELKIKEANIKHVAYLKQEMEVKTLNLQKAQRKCDAIKAQCSECEEEMKPIEARLVEIRNVEFEIGKYQAQKVEMDTKHKNCKDQISTLTLKIKKPFRGTLDELDQEISNFDQRMLEMRQKRTEVEGDLSQIKRSSVAEQEKLGTQDRKHCLAKQRHQSELACRAQLLKRVKEFCRELHIPIDCDLVEQPEKMGEVLRDIEAMIITKHCEITEIVEQNEKADRSRQVKIDELRIELTKSEQSVTAQEKQRESSKRESETLGVEIKKIETSMQDLKKLEKEINEVNELYESATKNIDQQAIKDAIARKKASIAENQIQFKKLDEQLTFLGSMAKLVAECSLKQKELDKKNQEVHRVRSRHSDHFGKLFKEPITCNYRRSMQVVYEKLRREIQELNEKANTQKLKEQSYEIKRKNLISDISRMEKELKDSEELIYQKCRSTPYDDLLERSKTTISKLQFDHGALKSSEALYKKYIQKMDEEPSCPLCHHNMTSDEACDLTSELTDEIQKLPDNITRAEKALKAEQIKYENLLQLKPTILKVKELKDSLPQKKEELKKVEELLGDSVSEYETLIALIGEPTHNMELANSMMGDMSLLDEALKDSARLTKDLDLQKGQLPASYDSSVSMDDLQAEKSKVSKELETERKELESAQNAVQQQMDALNRLREKKNSLKDRQIHLREGLQSLPQLKERLEKLNSFLTTVASEISELKAKIQPLKLNLRAAIEEKERLKKSESEKLAQLNSKYNSYKSTDHDIQRLNKEAEDYAKLDLRNEIKKLDEIIMASKDKLRKLEAEISLKTDELETIKTECSNQQTVERDLKDNRELKQLEDKEAKLRESCQVLDKQLGNLDFHSVSKEKVNLTKQRDKATVRKGELLGQLGEIHSQVNKLQREIDEPRFKESLKNFRKANYEIEVTRLCIEDLGQYRLALEWALIQFHSEKMEMINRLIREYWRKIYRGNDIDYIQVKTDEVSSDASADRRKTYNYRVVQSKNYSEIEMRGRCSAGQRVLASLIIRLALAETFSSNCGVLALDEPTTNLDRANINSLCEALNCIVEERQSQSNFMLIIITHDENFVSSLGKITSYHRVFRNEECKSVIRRVEAGPSKKALIDQ
UniProt ID: Q9W252
Variant: A -> E at position 246-246
Variant annotation: in strain: MW25
Protein function: Essential component of the MRN complex, a complex that possesses single-stranded DNA endonuclease and 3' to 5' exonuclease activities, and plays a central role in double-strand break (DSB) repair. The complex participates in processes such as DNA recombination, DNA repair, genome stability, telomere integrity and meiosis. The MRN complex may protect telomeres by facilitating recruitment of HOAP and HP1 at chromosome ends. In the complex, it mediates the ATP-binding and is probably required to bind DNA ends and hold them in close proximity.
Reference sequence:
MSSIESLSIQGIRSFGTYADDLQSIKFSSPVTLILGENGCGKTTVVECLKYALTGECPPGSDRGKSFVHDPKIFGLNEVLAQIKMQVRDRRGAQVSICRTMKVSKKRNKMSFETMDSTINFLTGAGQSKREKQDSLSGRSVDIDVAISDFMGVSKAIINNVLFCHQEDSSWPLDESKKLKEKFDAIFGITEYNKALDKIIKLRKEAMEELKIKEANIKHVAYLKQEMEVKTLNLQKAQRKCDAIKAQCSECEEEMKPIEARLVEIRNVEFEIGKYQAQKVEMDTKHKNCKDQISTLTLKIKKPFRGTLDELDQEISNFDQRMLEMRQKRTEVEGDLSQIKRSSVAEQEKLGTQDRKHCLAKQRHQSELACRAQLLKRVKEFCRELHIPIDCDLVEQPEKMGEVLRDIEAMIITKHCEITEIVEQNEKADRSRQVKIDELRIELTKSEQSVTAQEKQRESSKRESETLGVEIKKIETSMQDLKKLEKEINEVNELYESATKNIDQQAIKDAIARKKASIAENQIQFKKLDEQLTFLGSMAKLVAECSLKQKELDKKNQEVHRVRSRHSDHFGKLFKEPITCNYRRSMQVVYEKLRREIQELNEKANTQKLKEQSYEIKRKNLISDISRMEKELKDSEELIYQKCRSTPYDDLLERSKTTISKLQFDHGALKSSEALYKKYIQKMDEEPSCPLCHHNMTSDEACDLTSELTDEIQKLPDNITRAEKALKAEQIKYENLLQLKPTILKVKELKDSLPQKKEELKKVEELLGDSVSEYETLIALIGEPTHNMELANSMMGDMSLLDEALKDSARLTKDLDLQKGQLPASYDSSVSMDDLQAEKSKVSKELETERKELESAQNAVQQQMDALNRLREKKNSLKDRQIHLREGLQSLPQLKERLEKLNSFLTTVASEISELKAKIQPLKLNLRAAIEEKERLKKSESEKLAQLNSKYNSYKSTDHDIQRLNKEAEDYAKLDLRNEIKKLDEIIMASKDKLRKLEAEISLKTDELETIKTECSNQQTVERDLKDNRELKQLEDKEAKLRESCQVLDKQLGNLDFHSVSKEKVNLTKQRDKATVRKGELLGQLGEIHSQVNKLQREIDEPRFKESLKNFRKANYEIEVTRLCIEDLGQYRLALEWALIQFHSEKMEMINRLIREYWRKIYRGNDIDYIQVKTDEVSSDASADRRKTYNYRVVQSKNYSEIEMRGRCSAGQRVLASLIIRLALAETFSSNCGVLALDEPTTNLDRANINSLCEALNCIVEERQSQSNFMLIIITHDENFVSSLGKITSYHRVFRNEECKSVIRRVEAGPSKKALIDQ
UniProt ID: Q9W252
Variant: S -> M at position 249-249
Variant annotation: in strain: MW25
Protein function: Essential component of the MRN complex, a complex that possesses single-stranded DNA endonuclease and 3' to 5' exonuclease activities, and plays a central role in double-strand break (DSB) repair. The complex participates in processes such as DNA recombination, DNA repair, genome stability, telomere integrity and meiosis. The MRN complex may protect telomeres by facilitating recruitment of HOAP and HP1 at chromosome ends. In the complex, it mediates the ATP-binding and is probably required to bind DNA ends and hold them in close proximity.
Reference sequence:
MSSIESLSIQGIRSFGTYADDLQSIKFSSPVTLILGENGCGKTTVVECLKYALTGECPPGSDRGKSFVHDPKIFGLNEVLAQIKMQVRDRRGAQVSICRTMKVSKKRNKMSFETMDSTINFLTGAGQSKREKQDSLSGRSVDIDVAISDFMGVSKAIINNVLFCHQEDSSWPLDESKKLKEKFDAIFGITEYNKALDKIIKLRKEAMEELKIKEANIKHVAYLKQEMEVKTLNLQKAQRKCDAIKAQCSECEEEMKPIEARLVEIRNVEFEIGKYQAQKVEMDTKHKNCKDQISTLTLKIKKPFRGTLDELDQEISNFDQRMLEMRQKRTEVEGDLSQIKRSSVAEQEKLGTQDRKHCLAKQRHQSELACRAQLLKRVKEFCRELHIPIDCDLVEQPEKMGEVLRDIEAMIITKHCEITEIVEQNEKADRSRQVKIDELRIELTKSEQSVTAQEKQRESSKRESETLGVEIKKIETSMQDLKKLEKEINEVNELYESATKNIDQQAIKDAIARKKASIAENQIQFKKLDEQLTFLGSMAKLVAECSLKQKELDKKNQEVHRVRSRHSDHFGKLFKEPITCNYRRSMQVVYEKLRREIQELNEKANTQKLKEQSYEIKRKNLISDISRMEKELKDSEELIYQKCRSTPYDDLLERSKTTISKLQFDHGALKSSEALYKKYIQKMDEEPSCPLCHHNMTSDEACDLTSELTDEIQKLPDNITRAEKALKAEQIKYENLLQLKPTILKVKELKDSLPQKKEELKKVEELLGDSVSEYETLIALIGEPTHNMELANSMMGDMSLLDEALKDSARLTKDLDLQKGQLPASYDSSVSMDDLQAEKSKVSKELETERKELESAQNAVQQQMDALNRLREKKNSLKDRQIHLREGLQSLPQLKERLEKLNSFLTTVASEISELKAKIQPLKLNLRAAIEEKERLKKSESEKLAQLNSKYNSYKSTDHDIQRLNKEAEDYAKLDLRNEIKKLDEIIMASKDKLRKLEAEISLKTDELETIKTECSNQQTVERDLKDNRELKQLEDKEAKLRESCQVLDKQLGNLDFHSVSKEKVNLTKQRDKATVRKGELLGQLGEIHSQVNKLQREIDEPRFKESLKNFRKANYEIEVTRLCIEDLGQYRLALEWALIQFHSEKMEMINRLIREYWRKIYRGNDIDYIQVKTDEVSSDASADRRKTYNYRVVQSKNYSEIEMRGRCSAGQRVLASLIIRLALAETFSSNCGVLALDEPTTNLDRANINSLCEALNCIVEERQSQSNFMLIIITHDENFVSSLGKITSYHRVFRNEECKSVIRRVEAGPSKKALIDQ
UniProt ID: Q9W252
Variant: E -> Q at position 281-281
Variant annotation: in strain: NC306
Protein function: Essential component of the MRN complex, a complex that possesses single-stranded DNA endonuclease and 3' to 5' exonuclease activities, and plays a central role in double-strand break (DSB) repair. The complex participates in processes such as DNA recombination, DNA repair, genome stability, telomere integrity and meiosis. The MRN complex may protect telomeres by facilitating recruitment of HOAP and HP1 at chromosome ends. In the complex, it mediates the ATP-binding and is probably required to bind DNA ends and hold them in close proximity.
Reference sequence:
MSSIESLSIQGIRSFGTYADDLQSIKFSSPVTLILGENGCGKTTVVECLKYALTGECPPGSDRGKSFVHDPKIFGLNEVLAQIKMQVRDRRGAQVSICRTMKVSKKRNKMSFETMDSTINFLTGAGQSKREKQDSLSGRSVDIDVAISDFMGVSKAIINNVLFCHQEDSSWPLDESKKLKEKFDAIFGITEYNKALDKIIKLRKEAMEELKIKEANIKHVAYLKQEMEVKTLNLQKAQRKCDAIKAQCSECEEEMKPIEARLVEIRNVEFEIGKYQAQKVEMDTKHKNCKDQISTLTLKIKKPFRGTLDELDQEISNFDQRMLEMRQKRTEVEGDLSQIKRSSVAEQEKLGTQDRKHCLAKQRHQSELACRAQLLKRVKEFCRELHIPIDCDLVEQPEKMGEVLRDIEAMIITKHCEITEIVEQNEKADRSRQVKIDELRIELTKSEQSVTAQEKQRESSKRESETLGVEIKKIETSMQDLKKLEKEINEVNELYESATKNIDQQAIKDAIARKKASIAENQIQFKKLDEQLTFLGSMAKLVAECSLKQKELDKKNQEVHRVRSRHSDHFGKLFKEPITCNYRRSMQVVYEKLRREIQELNEKANTQKLKEQSYEIKRKNLISDISRMEKELKDSEELIYQKCRSTPYDDLLERSKTTISKLQFDHGALKSSEALYKKYIQKMDEEPSCPLCHHNMTSDEACDLTSELTDEIQKLPDNITRAEKALKAEQIKYENLLQLKPTILKVKELKDSLPQKKEELKKVEELLGDSVSEYETLIALIGEPTHNMELANSMMGDMSLLDEALKDSARLTKDLDLQKGQLPASYDSSVSMDDLQAEKSKVSKELETERKELESAQNAVQQQMDALNRLREKKNSLKDRQIHLREGLQSLPQLKERLEKLNSFLTTVASEISELKAKIQPLKLNLRAAIEEKERLKKSESEKLAQLNSKYNSYKSTDHDIQRLNKEAEDYAKLDLRNEIKKLDEIIMASKDKLRKLEAEISLKTDELETIKTECSNQQTVERDLKDNRELKQLEDKEAKLRESCQVLDKQLGNLDFHSVSKEKVNLTKQRDKATVRKGELLGQLGEIHSQVNKLQREIDEPRFKESLKNFRKANYEIEVTRLCIEDLGQYRLALEWALIQFHSEKMEMINRLIREYWRKIYRGNDIDYIQVKTDEVSSDASADRRKTYNYRVVQSKNYSEIEMRGRCSAGQRVLASLIIRLALAETFSSNCGVLALDEPTTNLDRANINSLCEALNCIVEERQSQSNFMLIIITHDENFVSSLGKITSYHRVFRNEECKSVIRRVEAGPSKKALIDQ
UniProt ID: Q9W252
Variant: K -> T at position 349-349
Variant annotation: in strain: MW9
Protein function: Essential component of the MRN complex, a complex that possesses single-stranded DNA endonuclease and 3' to 5' exonuclease activities, and plays a central role in double-strand break (DSB) repair. The complex participates in processes such as DNA recombination, DNA repair, genome stability, telomere integrity and meiosis. The MRN complex may protect telomeres by facilitating recruitment of HOAP and HP1 at chromosome ends. In the complex, it mediates the ATP-binding and is probably required to bind DNA ends and hold them in close proximity.
Reference sequence:
MSSIESLSIQGIRSFGTYADDLQSIKFSSPVTLILGENGCGKTTVVECLKYALTGECPPGSDRGKSFVHDPKIFGLNEVLAQIKMQVRDRRGAQVSICRTMKVSKKRNKMSFETMDSTINFLTGAGQSKREKQDSLSGRSVDIDVAISDFMGVSKAIINNVLFCHQEDSSWPLDESKKLKEKFDAIFGITEYNKALDKIIKLRKEAMEELKIKEANIKHVAYLKQEMEVKTLNLQKAQRKCDAIKAQCSECEEEMKPIEARLVEIRNVEFEIGKYQAQKVEMDTKHKNCKDQISTLTLKIKKPFRGTLDELDQEISNFDQRMLEMRQKRTEVEGDLSQIKRSSVAEQEKLGTQDRKHCLAKQRHQSELACRAQLLKRVKEFCRELHIPIDCDLVEQPEKMGEVLRDIEAMIITKHCEITEIVEQNEKADRSRQVKIDELRIELTKSEQSVTAQEKQRESSKRESETLGVEIKKIETSMQDLKKLEKEINEVNELYESATKNIDQQAIKDAIARKKASIAENQIQFKKLDEQLTFLGSMAKLVAECSLKQKELDKKNQEVHRVRSRHSDHFGKLFKEPITCNYRRSMQVVYEKLRREIQELNEKANTQKLKEQSYEIKRKNLISDISRMEKELKDSEELIYQKCRSTPYDDLLERSKTTISKLQFDHGALKSSEALYKKYIQKMDEEPSCPLCHHNMTSDEACDLTSELTDEIQKLPDNITRAEKALKAEQIKYENLLQLKPTILKVKELKDSLPQKKEELKKVEELLGDSVSEYETLIALIGEPTHNMELANSMMGDMSLLDEALKDSARLTKDLDLQKGQLPASYDSSVSMDDLQAEKSKVSKELETERKELESAQNAVQQQMDALNRLREKKNSLKDRQIHLREGLQSLPQLKERLEKLNSFLTTVASEISELKAKIQPLKLNLRAAIEEKERLKKSESEKLAQLNSKYNSYKSTDHDIQRLNKEAEDYAKLDLRNEIKKLDEIIMASKDKLRKLEAEISLKTDELETIKTECSNQQTVERDLKDNRELKQLEDKEAKLRESCQVLDKQLGNLDFHSVSKEKVNLTKQRDKATVRKGELLGQLGEIHSQVNKLQREIDEPRFKESLKNFRKANYEIEVTRLCIEDLGQYRLALEWALIQFHSEKMEMINRLIREYWRKIYRGNDIDYIQVKTDEVSSDASADRRKTYNYRVVQSKNYSEIEMRGRCSAGQRVLASLIIRLALAETFSSNCGVLALDEPTTNLDRANINSLCEALNCIVEERQSQSNFMLIIITHDENFVSSLGKITSYHRVFRNEECKSVIRRVEAGPSKKALIDQ
UniProt ID: Q9W252
Variant: V -> E at position 422-422
Variant annotation: in strain: NC361 and NC375
Protein function: Essential component of the MRN complex, a complex that possesses single-stranded DNA endonuclease and 3' to 5' exonuclease activities, and plays a central role in double-strand break (DSB) repair. The complex participates in processes such as DNA recombination, DNA repair, genome stability, telomere integrity and meiosis. The MRN complex may protect telomeres by facilitating recruitment of HOAP and HP1 at chromosome ends. In the complex, it mediates the ATP-binding and is probably required to bind DNA ends and hold them in close proximity.
Reference sequence:
MSSIESLSIQGIRSFGTYADDLQSIKFSSPVTLILGENGCGKTTVVECLKYALTGECPPGSDRGKSFVHDPKIFGLNEVLAQIKMQVRDRRGAQVSICRTMKVSKKRNKMSFETMDSTINFLTGAGQSKREKQDSLSGRSVDIDVAISDFMGVSKAIINNVLFCHQEDSSWPLDESKKLKEKFDAIFGITEYNKALDKIIKLRKEAMEELKIKEANIKHVAYLKQEMEVKTLNLQKAQRKCDAIKAQCSECEEEMKPIEARLVEIRNVEFEIGKYQAQKVEMDTKHKNCKDQISTLTLKIKKPFRGTLDELDQEISNFDQRMLEMRQKRTEVEGDLSQIKRSSVAEQEKLGTQDRKHCLAKQRHQSELACRAQLLKRVKEFCRELHIPIDCDLVEQPEKMGEVLRDIEAMIITKHCEITEIVEQNEKADRSRQVKIDELRIELTKSEQSVTAQEKQRESSKRESETLGVEIKKIETSMQDLKKLEKEINEVNELYESATKNIDQQAIKDAIARKKASIAENQIQFKKLDEQLTFLGSMAKLVAECSLKQKELDKKNQEVHRVRSRHSDHFGKLFKEPITCNYRRSMQVVYEKLRREIQELNEKANTQKLKEQSYEIKRKNLISDISRMEKELKDSEELIYQKCRSTPYDDLLERSKTTISKLQFDHGALKSSEALYKKYIQKMDEEPSCPLCHHNMTSDEACDLTSELTDEIQKLPDNITRAEKALKAEQIKYENLLQLKPTILKVKELKDSLPQKKEELKKVEELLGDSVSEYETLIALIGEPTHNMELANSMMGDMSLLDEALKDSARLTKDLDLQKGQLPASYDSSVSMDDLQAEKSKVSKELETERKELESAQNAVQQQMDALNRLREKKNSLKDRQIHLREGLQSLPQLKERLEKLNSFLTTVASEISELKAKIQPLKLNLRAAIEEKERLKKSESEKLAQLNSKYNSYKSTDHDIQRLNKEAEDYAKLDLRNEIKKLDEIIMASKDKLRKLEAEISLKTDELETIKTECSNQQTVERDLKDNRELKQLEDKEAKLRESCQVLDKQLGNLDFHSVSKEKVNLTKQRDKATVRKGELLGQLGEIHSQVNKLQREIDEPRFKESLKNFRKANYEIEVTRLCIEDLGQYRLALEWALIQFHSEKMEMINRLIREYWRKIYRGNDIDYIQVKTDEVSSDASADRRKTYNYRVVQSKNYSEIEMRGRCSAGQRVLASLIIRLALAETFSSNCGVLALDEPTTNLDRANINSLCEALNCIVEERQSQSNFMLIIITHDENFVSSLGKITSYHRVFRNEECKSVIRRVEAGPSKKALIDQ
UniProt ID: Q9W252
Variant: V -> I at position 450-450
Variant annotation: in strain: MW6
Protein function: Essential component of the MRN complex, a complex that possesses single-stranded DNA endonuclease and 3' to 5' exonuclease activities, and plays a central role in double-strand break (DSB) repair. The complex participates in processes such as DNA recombination, DNA repair, genome stability, telomere integrity and meiosis. The MRN complex may protect telomeres by facilitating recruitment of HOAP and HP1 at chromosome ends. In the complex, it mediates the ATP-binding and is probably required to bind DNA ends and hold them in close proximity.
Reference sequence:
MSSIESLSIQGIRSFGTYADDLQSIKFSSPVTLILGENGCGKTTVVECLKYALTGECPPGSDRGKSFVHDPKIFGLNEVLAQIKMQVRDRRGAQVSICRTMKVSKKRNKMSFETMDSTINFLTGAGQSKREKQDSLSGRSVDIDVAISDFMGVSKAIINNVLFCHQEDSSWPLDESKKLKEKFDAIFGITEYNKALDKIIKLRKEAMEELKIKEANIKHVAYLKQEMEVKTLNLQKAQRKCDAIKAQCSECEEEMKPIEARLVEIRNVEFEIGKYQAQKVEMDTKHKNCKDQISTLTLKIKKPFRGTLDELDQEISNFDQRMLEMRQKRTEVEGDLSQIKRSSVAEQEKLGTQDRKHCLAKQRHQSELACRAQLLKRVKEFCRELHIPIDCDLVEQPEKMGEVLRDIEAMIITKHCEITEIVEQNEKADRSRQVKIDELRIELTKSEQSVTAQEKQRESSKRESETLGVEIKKIETSMQDLKKLEKEINEVNELYESATKNIDQQAIKDAIARKKASIAENQIQFKKLDEQLTFLGSMAKLVAECSLKQKELDKKNQEVHRVRSRHSDHFGKLFKEPITCNYRRSMQVVYEKLRREIQELNEKANTQKLKEQSYEIKRKNLISDISRMEKELKDSEELIYQKCRSTPYDDLLERSKTTISKLQFDHGALKSSEALYKKYIQKMDEEPSCPLCHHNMTSDEACDLTSELTDEIQKLPDNITRAEKALKAEQIKYENLLQLKPTILKVKELKDSLPQKKEELKKVEELLGDSVSEYETLIALIGEPTHNMELANSMMGDMSLLDEALKDSARLTKDLDLQKGQLPASYDSSVSMDDLQAEKSKVSKELETERKELESAQNAVQQQMDALNRLREKKNSLKDRQIHLREGLQSLPQLKERLEKLNSFLTTVASEISELKAKIQPLKLNLRAAIEEKERLKKSESEKLAQLNSKYNSYKSTDHDIQRLNKEAEDYAKLDLRNEIKKLDEIIMASKDKLRKLEAEISLKTDELETIKTECSNQQTVERDLKDNRELKQLEDKEAKLRESCQVLDKQLGNLDFHSVSKEKVNLTKQRDKATVRKGELLGQLGEIHSQVNKLQREIDEPRFKESLKNFRKANYEIEVTRLCIEDLGQYRLALEWALIQFHSEKMEMINRLIREYWRKIYRGNDIDYIQVKTDEVSSDASADRRKTYNYRVVQSKNYSEIEMRGRCSAGQRVLASLIIRLALAETFSSNCGVLALDEPTTNLDRANINSLCEALNCIVEERQSQSNFMLIIITHDENFVSSLGKITSYHRVFRNEECKSVIRRVEAGPSKKALIDQ