sujigwak/NVAR huggingface dataset:
UniProt ID: Q93099
Variant: N -> D at position 337-337
Variant annotation: in AKU
Protein function: Catalyzes the conversion of homogentisate to maleylacetoacetate.
Reference sequence:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
UniProt ID: Q93099
Variant: P -> L at position 359-359
Variant annotation: in AKU; dbSNP:rs764037565
Protein function: Catalyzes the conversion of homogentisate to maleylacetoacetate.
Reference sequence:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
UniProt ID: Q93099
Variant: G -> A at position 360-360
Variant annotation: in AKU
Protein function: Catalyzes the conversion of homogentisate to maleylacetoacetate.
Reference sequence:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
UniProt ID: Q93099
Variant: G -> R at position 360-360
Variant annotation: in AKU; dbSNP:rs368717991
Protein function: Catalyzes the conversion of homogentisate to maleylacetoacetate.
Reference sequence:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
UniProt ID: Q93099
Variant: G -> R at position 361-361
Variant annotation: in AKU; dbSNP:rs765219004
Protein function: Catalyzes the conversion of homogentisate to maleylacetoacetate.
Reference sequence:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
UniProt ID: Q93099
Variant: G -> E at position 362-362
Variant annotation: in AKU
Protein function: Catalyzes the conversion of homogentisate to maleylacetoacetate.
Reference sequence:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
UniProt ID: Q93099
Variant: M -> V at position 368-368
Variant annotation: in AKU; loss of activity; dbSNP:rs120074173
Effect: loss
Target: activity
Protein function: Catalyzes the conversion of homogentisate to maleylacetoacetate.
Reference sequence:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
UniProt ID: Q93099
Variant: T -> N at position 369-369
Variant annotation: in AKU; dbSNP:rs765912447
Protein function: Catalyzes the conversion of homogentisate to maleylacetoacetate.
Reference sequence:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
UniProt ID: Q93099
Variant: H -> R at position 371-371
Variant annotation: in AKU; dbSNP:rs120074172
Protein function: Catalyzes the conversion of homogentisate to maleylacetoacetate.
Reference sequence:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
UniProt ID: Q93099
Variant: P -> L at position 373-373
Variant annotation: in AKU; dbSNP:rs138558042
Protein function: Catalyzes the conversion of homogentisate to maleylacetoacetate.
Reference sequence:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
UniProt ID: Q93099
Variant: D -> H at position 374-374
Variant annotation: in AKU; dbSNP:rs981454067
Protein function: Catalyzes the conversion of homogentisate to maleylacetoacetate.
Reference sequence:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
UniProt ID: Q93099
Variant: E -> Q at position 401-401
Variant annotation: in AKU; dbSNP:rs767159114
Protein function: Catalyzes the conversion of homogentisate to maleylacetoacetate.
Reference sequence:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
UniProt ID: Q93100
Variant: A -> P at position 118-118
Variant annotation: in GSD9B; dbSNP:rs121918022
Protein function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
Reference sequence:
MAGAAGLTAEVSWKVLERRARTKRSGSVYEPLKSINLPRPDNETLWDKLDHYYRIVKSTLLLYQSPTTGLFPTKTCGGDQKAKIQDSLYCAAGAWALALAYRRIDDDKGRTHELEHSAIKCMRGILYCYMRQADKVQQFKQDPRPTTCLHSVFNVHTGDELLSYEEYGHLQINAVSLYLLYLVEMISSGLQIIYNTDEVSFIQNLVFCVERVYRVPDFGVWERGSKYNNGSTELHSSSVGLAKAALEAINGFNLFGNQGCSWSVIFVDLDAHNRNRQTLCSLLPRESRSHNTDAALLPCISYPAFALDDEVLFSQTLDKVVRKLKGKYGFKRFLRDGYRTSLEDPNRCYYKPAEIKLFDGIECEFPIFFLYMMIDGVFRGNPKQVQEYQDLLTPVLHHTTEGYPVVPKYYYVPADFVEYEKNNPGSQKRFPSNCGRDGKLFLWGQALYIIAKLLADELISPKDIDPVQRYVPLKDQRNVSMRFSNQGPLENDLVVHVALIAESQRLQVFLNTYGIQTQTPQQVEPIQIWPQQELVKAYLQLGINEKLGLSGRPDRPIGCLGTSKIYRILGKTVVCYPIIFDLSDFYMSQDVFLLIDDIKNALQFIKQYWKMHGRPLFLVLIREDNIRGSRFNPILDMLAALKKGIIGGVKVHVDRLQTLISGAVVEQLDFLRISDTEELPEFKSFEELEPPKHSKVKRQSSTPSAPELGQQPDVNISEWKDKPTHEILQKLNDCSCLASQAILLGILLKREGPNFITKEGTVSDHIERVYRRAGSQKLWLAVRYGAAFTQKFSSSIAPHITTFLVHGKQVTLGAFGHEEEVISNPLSPRVIQNIIYYKCNTHDEREAVIQQELVIHIGWIISNNPELFSGMLKIRIGWIIHAMEYELQIRGGDKPALDLYQLSPSEVKQLLLDILQPQQNGRCWLNRRQIDGSLNRTPTGFYDRVWQILERTPNGIIVAGKHLPQQPTLSDMTMYEMNFSLLVEDTLGNIDQPQYRQIVVELLMVVSIVLERNPELEFQDKVDLDRLVKEAFNEFQKDQSRLKEIEKQDDMTSFYNTPPLGKRGTCSYLTKAVMNLLLEGEVKPNNDDPCLIS
UniProt ID: Q93100
Variant: Q -> K at position 657-657
Variant annotation: in dbSNP:rs34667348
Protein function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
Reference sequence:
MAGAAGLTAEVSWKVLERRARTKRSGSVYEPLKSINLPRPDNETLWDKLDHYYRIVKSTLLLYQSPTTGLFPTKTCGGDQKAKIQDSLYCAAGAWALALAYRRIDDDKGRTHELEHSAIKCMRGILYCYMRQADKVQQFKQDPRPTTCLHSVFNVHTGDELLSYEEYGHLQINAVSLYLLYLVEMISSGLQIIYNTDEVSFIQNLVFCVERVYRVPDFGVWERGSKYNNGSTELHSSSVGLAKAALEAINGFNLFGNQGCSWSVIFVDLDAHNRNRQTLCSLLPRESRSHNTDAALLPCISYPAFALDDEVLFSQTLDKVVRKLKGKYGFKRFLRDGYRTSLEDPNRCYYKPAEIKLFDGIECEFPIFFLYMMIDGVFRGNPKQVQEYQDLLTPVLHHTTEGYPVVPKYYYVPADFVEYEKNNPGSQKRFPSNCGRDGKLFLWGQALYIIAKLLADELISPKDIDPVQRYVPLKDQRNVSMRFSNQGPLENDLVVHVALIAESQRLQVFLNTYGIQTQTPQQVEPIQIWPQQELVKAYLQLGINEKLGLSGRPDRPIGCLGTSKIYRILGKTVVCYPIIFDLSDFYMSQDVFLLIDDIKNALQFIKQYWKMHGRPLFLVLIREDNIRGSRFNPILDMLAALKKGIIGGVKVHVDRLQTLISGAVVEQLDFLRISDTEELPEFKSFEELEPPKHSKVKRQSSTPSAPELGQQPDVNISEWKDKPTHEILQKLNDCSCLASQAILLGILLKREGPNFITKEGTVSDHIERVYRRAGSQKLWLAVRYGAAFTQKFSSSIAPHITTFLVHGKQVTLGAFGHEEEVISNPLSPRVIQNIIYYKCNTHDEREAVIQQELVIHIGWIISNNPELFSGMLKIRIGWIIHAMEYELQIRGGDKPALDLYQLSPSEVKQLLLDILQPQQNGRCWLNRRQIDGSLNRTPTGFYDRVWQILERTPNGIIVAGKHLPQQPTLSDMTMYEMNFSLLVEDTLGNIDQPQYRQIVVELLMVVSIVLERNPELEFQDKVDLDRLVKEAFNEFQKDQSRLKEIEKQDDMTSFYNTPPLGKRGTCSYLTKAVMNLLLEGEVKPNNDDPCLIS
UniProt ID: Q93100
Variant: Y -> C at position 770-770
Variant annotation: in dbSNP:rs16945474
Protein function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
Reference sequence:
MAGAAGLTAEVSWKVLERRARTKRSGSVYEPLKSINLPRPDNETLWDKLDHYYRIVKSTLLLYQSPTTGLFPTKTCGGDQKAKIQDSLYCAAGAWALALAYRRIDDDKGRTHELEHSAIKCMRGILYCYMRQADKVQQFKQDPRPTTCLHSVFNVHTGDELLSYEEYGHLQINAVSLYLLYLVEMISSGLQIIYNTDEVSFIQNLVFCVERVYRVPDFGVWERGSKYNNGSTELHSSSVGLAKAALEAINGFNLFGNQGCSWSVIFVDLDAHNRNRQTLCSLLPRESRSHNTDAALLPCISYPAFALDDEVLFSQTLDKVVRKLKGKYGFKRFLRDGYRTSLEDPNRCYYKPAEIKLFDGIECEFPIFFLYMMIDGVFRGNPKQVQEYQDLLTPVLHHTTEGYPVVPKYYYVPADFVEYEKNNPGSQKRFPSNCGRDGKLFLWGQALYIIAKLLADELISPKDIDPVQRYVPLKDQRNVSMRFSNQGPLENDLVVHVALIAESQRLQVFLNTYGIQTQTPQQVEPIQIWPQQELVKAYLQLGINEKLGLSGRPDRPIGCLGTSKIYRILGKTVVCYPIIFDLSDFYMSQDVFLLIDDIKNALQFIKQYWKMHGRPLFLVLIREDNIRGSRFNPILDMLAALKKGIIGGVKVHVDRLQTLISGAVVEQLDFLRISDTEELPEFKSFEELEPPKHSKVKRQSSTPSAPELGQQPDVNISEWKDKPTHEILQKLNDCSCLASQAILLGILLKREGPNFITKEGTVSDHIERVYRRAGSQKLWLAVRYGAAFTQKFSSSIAPHITTFLVHGKQVTLGAFGHEEEVISNPLSPRVIQNIIYYKCNTHDEREAVIQQELVIHIGWIISNNPELFSGMLKIRIGWIIHAMEYELQIRGGDKPALDLYQLSPSEVKQLLLDILQPQQNGRCWLNRRQIDGSLNRTPTGFYDRVWQILERTPNGIIVAGKHLPQQPTLSDMTMYEMNFSLLVEDTLGNIDQPQYRQIVVELLMVVSIVLERNPELEFQDKVDLDRLVKEAFNEFQKDQSRLKEIEKQDDMTSFYNTPPLGKRGTCSYLTKAVMNLLLEGEVKPNNDDPCLIS
UniProt ID: Q93100
Variant: E -> V at position 820-820
Variant annotation: in dbSNP:rs9934849
Protein function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
Reference sequence:
MAGAAGLTAEVSWKVLERRARTKRSGSVYEPLKSINLPRPDNETLWDKLDHYYRIVKSTLLLYQSPTTGLFPTKTCGGDQKAKIQDSLYCAAGAWALALAYRRIDDDKGRTHELEHSAIKCMRGILYCYMRQADKVQQFKQDPRPTTCLHSVFNVHTGDELLSYEEYGHLQINAVSLYLLYLVEMISSGLQIIYNTDEVSFIQNLVFCVERVYRVPDFGVWERGSKYNNGSTELHSSSVGLAKAALEAINGFNLFGNQGCSWSVIFVDLDAHNRNRQTLCSLLPRESRSHNTDAALLPCISYPAFALDDEVLFSQTLDKVVRKLKGKYGFKRFLRDGYRTSLEDPNRCYYKPAEIKLFDGIECEFPIFFLYMMIDGVFRGNPKQVQEYQDLLTPVLHHTTEGYPVVPKYYYVPADFVEYEKNNPGSQKRFPSNCGRDGKLFLWGQALYIIAKLLADELISPKDIDPVQRYVPLKDQRNVSMRFSNQGPLENDLVVHVALIAESQRLQVFLNTYGIQTQTPQQVEPIQIWPQQELVKAYLQLGINEKLGLSGRPDRPIGCLGTSKIYRILGKTVVCYPIIFDLSDFYMSQDVFLLIDDIKNALQFIKQYWKMHGRPLFLVLIREDNIRGSRFNPILDMLAALKKGIIGGVKVHVDRLQTLISGAVVEQLDFLRISDTEELPEFKSFEELEPPKHSKVKRQSSTPSAPELGQQPDVNISEWKDKPTHEILQKLNDCSCLASQAILLGILLKREGPNFITKEGTVSDHIERVYRRAGSQKLWLAVRYGAAFTQKFSSSIAPHITTFLVHGKQVTLGAFGHEEEVISNPLSPRVIQNIIYYKCNTHDEREAVIQQELVIHIGWIISNNPELFSGMLKIRIGWIIHAMEYELQIRGGDKPALDLYQLSPSEVKQLLLDILQPQQNGRCWLNRRQIDGSLNRTPTGFYDRVWQILERTPNGIIVAGKHLPQQPTLSDMTMYEMNFSLLVEDTLGNIDQPQYRQIVVELLMVVSIVLERNPELEFQDKVDLDRLVKEAFNEFQKDQSRLKEIEKQDDMTSFYNTPPLGKRGTCSYLTKAVMNLLLEGEVKPNNDDPCLIS
UniProt ID: Q93100
Variant: L -> V at position 867-867
Variant annotation: in a breast cancer sample; somatic mutation
Protein function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
Reference sequence:
MAGAAGLTAEVSWKVLERRARTKRSGSVYEPLKSINLPRPDNETLWDKLDHYYRIVKSTLLLYQSPTTGLFPTKTCGGDQKAKIQDSLYCAAGAWALALAYRRIDDDKGRTHELEHSAIKCMRGILYCYMRQADKVQQFKQDPRPTTCLHSVFNVHTGDELLSYEEYGHLQINAVSLYLLYLVEMISSGLQIIYNTDEVSFIQNLVFCVERVYRVPDFGVWERGSKYNNGSTELHSSSVGLAKAALEAINGFNLFGNQGCSWSVIFVDLDAHNRNRQTLCSLLPRESRSHNTDAALLPCISYPAFALDDEVLFSQTLDKVVRKLKGKYGFKRFLRDGYRTSLEDPNRCYYKPAEIKLFDGIECEFPIFFLYMMIDGVFRGNPKQVQEYQDLLTPVLHHTTEGYPVVPKYYYVPADFVEYEKNNPGSQKRFPSNCGRDGKLFLWGQALYIIAKLLADELISPKDIDPVQRYVPLKDQRNVSMRFSNQGPLENDLVVHVALIAESQRLQVFLNTYGIQTQTPQQVEPIQIWPQQELVKAYLQLGINEKLGLSGRPDRPIGCLGTSKIYRILGKTVVCYPIIFDLSDFYMSQDVFLLIDDIKNALQFIKQYWKMHGRPLFLVLIREDNIRGSRFNPILDMLAALKKGIIGGVKVHVDRLQTLISGAVVEQLDFLRISDTEELPEFKSFEELEPPKHSKVKRQSSTPSAPELGQQPDVNISEWKDKPTHEILQKLNDCSCLASQAILLGILLKREGPNFITKEGTVSDHIERVYRRAGSQKLWLAVRYGAAFTQKFSSSIAPHITTFLVHGKQVTLGAFGHEEEVISNPLSPRVIQNIIYYKCNTHDEREAVIQQELVIHIGWIISNNPELFSGMLKIRIGWIIHAMEYELQIRGGDKPALDLYQLSPSEVKQLLLDILQPQQNGRCWLNRRQIDGSLNRTPTGFYDRVWQILERTPNGIIVAGKHLPQQPTLSDMTMYEMNFSLLVEDTLGNIDQPQYRQIVVELLMVVSIVLERNPELEFQDKVDLDRLVKEAFNEFQKDQSRLKEIEKQDDMTSFYNTPPLGKRGTCSYLTKAVMNLLLEGEVKPNNDDPCLIS
UniProt ID: Q93100
Variant: G -> R at position 877-877
Variant annotation: in a breast cancer sample; somatic mutation; dbSNP:rs150902092
Protein function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
Reference sequence:
MAGAAGLTAEVSWKVLERRARTKRSGSVYEPLKSINLPRPDNETLWDKLDHYYRIVKSTLLLYQSPTTGLFPTKTCGGDQKAKIQDSLYCAAGAWALALAYRRIDDDKGRTHELEHSAIKCMRGILYCYMRQADKVQQFKQDPRPTTCLHSVFNVHTGDELLSYEEYGHLQINAVSLYLLYLVEMISSGLQIIYNTDEVSFIQNLVFCVERVYRVPDFGVWERGSKYNNGSTELHSSSVGLAKAALEAINGFNLFGNQGCSWSVIFVDLDAHNRNRQTLCSLLPRESRSHNTDAALLPCISYPAFALDDEVLFSQTLDKVVRKLKGKYGFKRFLRDGYRTSLEDPNRCYYKPAEIKLFDGIECEFPIFFLYMMIDGVFRGNPKQVQEYQDLLTPVLHHTTEGYPVVPKYYYVPADFVEYEKNNPGSQKRFPSNCGRDGKLFLWGQALYIIAKLLADELISPKDIDPVQRYVPLKDQRNVSMRFSNQGPLENDLVVHVALIAESQRLQVFLNTYGIQTQTPQQVEPIQIWPQQELVKAYLQLGINEKLGLSGRPDRPIGCLGTSKIYRILGKTVVCYPIIFDLSDFYMSQDVFLLIDDIKNALQFIKQYWKMHGRPLFLVLIREDNIRGSRFNPILDMLAALKKGIIGGVKVHVDRLQTLISGAVVEQLDFLRISDTEELPEFKSFEELEPPKHSKVKRQSSTPSAPELGQQPDVNISEWKDKPTHEILQKLNDCSCLASQAILLGILLKREGPNFITKEGTVSDHIERVYRRAGSQKLWLAVRYGAAFTQKFSSSIAPHITTFLVHGKQVTLGAFGHEEEVISNPLSPRVIQNIIYYKCNTHDEREAVIQQELVIHIGWIISNNPELFSGMLKIRIGWIIHAMEYELQIRGGDKPALDLYQLSPSEVKQLLLDILQPQQNGRCWLNRRQIDGSLNRTPTGFYDRVWQILERTPNGIIVAGKHLPQQPTLSDMTMYEMNFSLLVEDTLGNIDQPQYRQIVVELLMVVSIVLERNPELEFQDKVDLDRLVKEAFNEFQKDQSRLKEIEKQDDMTSFYNTPPLGKRGTCSYLTKAVMNLLLEGEVKPNNDDPCLIS
UniProt ID: Q933E0
Variant: P -> S at position 351-351
Variant annotation: in strain: Serotype T10 / PH252
Protein function: Part of the ABC transporter complex LktBD involved in leukotoxin export. Transmembrane domains (TMD) form a pore in the inner membrane and the ATP-binding domain (NBD) is responsible for energy generation (Probable).
Reference sequence:
MEANHQRNDLGLVALTMLAQYHNISLNPEEIKHKFDLDGKGLSLTSWLLAAKSLALKAKHIKKEISRLHLVNLPALVWQDNGKHFLLVKVDTDNNRYLTYNLEQDAPQILSQDEFEACYQGQLILVTSRASVVGQLAKFDFTWFIPAVIKYRKIFLETLIVSIFLQIFALITPLFFQVVMDKVLVHRGFSTLNIITVALAIVIIFEIVLSGLRTYVFSHSTSRIDVELGAKLFRHLLSLPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTLVILGSLPFYILWSIFISPILRRRLDDKFARSADNQAFLVESVTAINMIKAMAVAPQMTDTWDKQLASYVSSSFRVTVLATIGQQGVQLIQKTVMVINLWLGAHLVISGDLSIGQLIAFNMLSGQVIAPVIRLAQLWQDFQQVGISVTRLGDVLNSPTEQYQGKLSLPEIKGDISFKNIRFRYKPDAPTILNNVNLEIRQGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRENIALSDPGMPMERVIYAAKLAGAHDFISELREGYNTIVGEQGAGLSGGQRQRIAIARALVNNPKILIFDEATSALDYESEHIIMQNMQKICQGRTVILIAHRLSTVKNADRIIVMEKGEIVEQGKHHELLQNSNGLYSYLHQLQLN
UniProt ID: Q933I3
Variant: N -> K at position 40-40
Variant annotation: in strain: Serotype A11 / PH240 and Serotype UG3 / PH496
Protein function: Part of the ABC transporter complex LktBD involved in leukotoxin export. Transmembrane domains (TMD) form a pore in the inner membrane and the ATP-binding domain (NBD) is responsible for energy generation (Probable).
Reference sequence:
MEANHQRNDLGLVALTMLAQYHNISLNPEEIKHKFDLDGNGLSLTSWLLAAKSLALKAKHIKKEISRLHLVNLPALVWQDNGKHFLLVKVDTDNNRYLTYNLEQDAPQILSQDEFEACYQGQLILVTSRASVVGQLAKFDFTWFIPAVIKYRKIFLETLIVSIFLQIFALITPLFFQVVMDKVLVHRGFSTLNIITVALAIVIIFEIVLSGLRTYVFSHSTSRIDVELGAKLFRHLLSLPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTLVILGSLPCYILWSIFISPILRRRLDEKFARSADNQAFLVESVTAINMIKAMAVAPQMTDTWDKQLASYVSSSFRVTVLATIGQQGVQLIQKTVMVINLWLGAHLVISGDLSIGQLIAFNMLSGQVIAPVIRLAQLWQDFQQVGISVTRLGDVLNSPTEQYQGKLSLPEIQGDIAFKNIRFRYKPDAPTILNNVNLEIKKGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRENIALSEPGMSMERVIYAAKLAGAHDFISELREGYNTIVGEQGAGLSGGQRQRIAIARALVNNPKILIFDEATSALDYESEHIIMQNMQKICQGRTVILIAHRLSTVKNADRIIVMEKGEIVEQGKHHELLQNSNGLYSYLHQLQLN
UniProt ID: Q933I3
Variant: G -> E at position 121-121
Variant annotation: in strain: Serotype UG3 / PH496
Protein function: Part of the ABC transporter complex LktBD involved in leukotoxin export. Transmembrane domains (TMD) form a pore in the inner membrane and the ATP-binding domain (NBD) is responsible for energy generation (Probable).
Reference sequence:
MEANHQRNDLGLVALTMLAQYHNISLNPEEIKHKFDLDGNGLSLTSWLLAAKSLALKAKHIKKEISRLHLVNLPALVWQDNGKHFLLVKVDTDNNRYLTYNLEQDAPQILSQDEFEACYQGQLILVTSRASVVGQLAKFDFTWFIPAVIKYRKIFLETLIVSIFLQIFALITPLFFQVVMDKVLVHRGFSTLNIITVALAIVIIFEIVLSGLRTYVFSHSTSRIDVELGAKLFRHLLSLPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTLVILGSLPCYILWSIFISPILRRRLDEKFARSADNQAFLVESVTAINMIKAMAVAPQMTDTWDKQLASYVSSSFRVTVLATIGQQGVQLIQKTVMVINLWLGAHLVISGDLSIGQLIAFNMLSGQVIAPVIRLAQLWQDFQQVGISVTRLGDVLNSPTEQYQGKLSLPEIQGDIAFKNIRFRYKPDAPTILNNVNLEIKKGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRENIALSEPGMSMERVIYAAKLAGAHDFISELREGYNTIVGEQGAGLSGGQRQRIAIARALVNNPKILIFDEATSALDYESEHIIMQNMQKICQGRTVILIAHRLSTVKNADRIIVMEKGEIVEQGKHHELLQNSNGLYSYLHQLQLN
UniProt ID: Q933I3
Variant: L -> F at position 232-232
Variant annotation: in strain: Serotype A11 / PH498
Protein function: Part of the ABC transporter complex LktBD involved in leukotoxin export. Transmembrane domains (TMD) form a pore in the inner membrane and the ATP-binding domain (NBD) is responsible for energy generation (Probable).
Reference sequence:
MEANHQRNDLGLVALTMLAQYHNISLNPEEIKHKFDLDGNGLSLTSWLLAAKSLALKAKHIKKEISRLHLVNLPALVWQDNGKHFLLVKVDTDNNRYLTYNLEQDAPQILSQDEFEACYQGQLILVTSRASVVGQLAKFDFTWFIPAVIKYRKIFLETLIVSIFLQIFALITPLFFQVVMDKVLVHRGFSTLNIITVALAIVIIFEIVLSGLRTYVFSHSTSRIDVELGAKLFRHLLSLPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTLVILGSLPCYILWSIFISPILRRRLDEKFARSADNQAFLVESVTAINMIKAMAVAPQMTDTWDKQLASYVSSSFRVTVLATIGQQGVQLIQKTVMVINLWLGAHLVISGDLSIGQLIAFNMLSGQVIAPVIRLAQLWQDFQQVGISVTRLGDVLNSPTEQYQGKLSLPEIQGDIAFKNIRFRYKPDAPTILNNVNLEIKKGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRENIALSEPGMSMERVIYAAKLAGAHDFISELREGYNTIVGEQGAGLSGGQRQRIAIARALVNNPKILIFDEATSALDYESEHIIMQNMQKICQGRTVILIAHRLSTVKNADRIIVMEKGEIVEQGKHHELLQNSNGLYSYLHQLQLN
UniProt ID: Q93FG6
Variant: S -> A at position 46-46
Variant annotation: in strain: Serotype A2 / PH278 and Serotype A2 / PH494
Protein function: Part of the ABC transporter complex LktBD involved in leukotoxin export. Transmembrane domains (TMD) form a pore in the inner membrane and the ATP-binding domain (NBD) is responsible for energy generation (Probable).
Reference sequence:
MEANHQRNDLGLVALTMLAQYHNISLNPEEIKHKFDLDGKGLSLTSWLLAAKSLALKAKHIKKEISRLHLVNLPALVWQDNGKHFLLVKVDTDNNRYLTYNLEQDAPQILSQDEFEACYQGQLILVTSRASVVGQLAKFDFTWFIPAVIKYRKIFLETLIVSIFLQIFALITPLFFQVVMDKVLVHRGFSTLNIITVALAIVIIFEIVLSGLRTYVFSHSTSRIDVELGAKLFRHLLSLPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTLVILGSLPCYILWSIFISPILRRRLDDKFARSADNQAFLVESVTAINMIKAMAVAPQMTDTWDKQLASYVSSSFRVTVLATIGQQGVQLIQKTVMVINLWLGAHLVISGDLSIGQLIAFNMLSGQVIAPVIRLAQLWQDFQQVGISVTRLGDVLNSPTEQYQGKLSLPEIKGYISFKNIRFRYKPDAPTILNNVNLEIRQGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRENIALSDPGMPMERVIYAAKLAGAHDFISELREGYNTIVGEQGAGLSGGQRQRIAIARALVNNPKILIFDEATSALDYESEHIIMQNMQKICQGRTVILIAHRLSTVKNADRIIVMEKGEIVEQGKHHELLQNSNGLYSYLHQLQLN
UniProt ID: Q93FG6
Variant: I -> V at position 65-65
Variant annotation: in strain: Serotype A2 / PH494
Protein function: Part of the ABC transporter complex LktBD involved in leukotoxin export. Transmembrane domains (TMD) form a pore in the inner membrane and the ATP-binding domain (NBD) is responsible for energy generation (Probable).
Reference sequence:
MEANHQRNDLGLVALTMLAQYHNISLNPEEIKHKFDLDGKGLSLTSWLLAAKSLALKAKHIKKEISRLHLVNLPALVWQDNGKHFLLVKVDTDNNRYLTYNLEQDAPQILSQDEFEACYQGQLILVTSRASVVGQLAKFDFTWFIPAVIKYRKIFLETLIVSIFLQIFALITPLFFQVVMDKVLVHRGFSTLNIITVALAIVIIFEIVLSGLRTYVFSHSTSRIDVELGAKLFRHLLSLPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTLVILGSLPCYILWSIFISPILRRRLDDKFARSADNQAFLVESVTAINMIKAMAVAPQMTDTWDKQLASYVSSSFRVTVLATIGQQGVQLIQKTVMVINLWLGAHLVISGDLSIGQLIAFNMLSGQVIAPVIRLAQLWQDFQQVGISVTRLGDVLNSPTEQYQGKLSLPEIKGYISFKNIRFRYKPDAPTILNNVNLEIRQGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRENIALSDPGMPMERVIYAAKLAGAHDFISELREGYNTIVGEQGAGLSGGQRQRIAIARALVNNPKILIFDEATSALDYESEHIIMQNMQKICQGRTVILIAHRLSTVKNADRIIVMEKGEIVEQGKHHELLQNSNGLYSYLHQLQLN
UniProt ID: Q93FG6
Variant: N -> D at position 101-101
Variant annotation: in strain: Serotype A2 / PH494
Protein function: Part of the ABC transporter complex LktBD involved in leukotoxin export. Transmembrane domains (TMD) form a pore in the inner membrane and the ATP-binding domain (NBD) is responsible for energy generation (Probable).
Reference sequence:
MEANHQRNDLGLVALTMLAQYHNISLNPEEIKHKFDLDGKGLSLTSWLLAAKSLALKAKHIKKEISRLHLVNLPALVWQDNGKHFLLVKVDTDNNRYLTYNLEQDAPQILSQDEFEACYQGQLILVTSRASVVGQLAKFDFTWFIPAVIKYRKIFLETLIVSIFLQIFALITPLFFQVVMDKVLVHRGFSTLNIITVALAIVIIFEIVLSGLRTYVFSHSTSRIDVELGAKLFRHLLSLPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTLVILGSLPCYILWSIFISPILRRRLDDKFARSADNQAFLVESVTAINMIKAMAVAPQMTDTWDKQLASYVSSSFRVTVLATIGQQGVQLIQKTVMVINLWLGAHLVISGDLSIGQLIAFNMLSGQVIAPVIRLAQLWQDFQQVGISVTRLGDVLNSPTEQYQGKLSLPEIKGYISFKNIRFRYKPDAPTILNNVNLEIRQGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRENIALSDPGMPMERVIYAAKLAGAHDFISELREGYNTIVGEQGAGLSGGQRQRIAIARALVNNPKILIFDEATSALDYESEHIIMQNMQKICQGRTVILIAHRLSTVKNADRIIVMEKGEIVEQGKHHELLQNSNGLYSYLHQLQLN