sujigwak/NVAR huggingface dataset:
UniProt ID: Q03923
Variant: F -> S at position 270-270
Variant annotation: in dbSNP:rs11670246
Protein function: May be a transcriptional repressor.
Reference sequence:
MGPLTFRDVAIEFSLKEWQCLDTAQRNLYRNVMLENYRNLVFLGITVSKPDLITCLEQGKEAWSMKRHEIMVAKPTVMCSHFAQDLWPEQNIKDSFQKVTLKRYGKCRHENLPLRKGCESMDECKMHKGGCNGLNQCLTATQSKIFQCDKYVKVAHKFSNSNRHEIRHTKKKPFKCTKCGKSFGMISCLTEHSRIHTRVNFYKCEECGKAFNWSSTLTKHKRIHTGEKPYKCEECGKAFNQSSNLIKHKKIHTGEKPYKCEECGKTFNRFSTLTTHKIIHTGEKPYKCKECGKAFNRSSTLTTHRKIHTGEKPYKCEECGKAFKQSSNLTTHKIIHTGEKPYKCKKCGKAFNQSAHLTTHEVIHTGEKPYKCEKCGKAFNHFSHLTTHKIIHTGEKPYKCKECGKAFKHSSTLTKHKIIHTGEKPYKCKECEKAFNQSSKLTEHKKIHTGEKPYECEKCGKAFNQSSNLTRHKKSHTEEKPYKCEECGKGFKWPSTLTIHKIIHTGEKPYKCEECGKAFNQSSKLTKHKKIHTGEKPYTCEECGKAFNQSSNLTKHKRIHTGEKPYKCEECDKAFKWSSVLTKHKIIHTGEKLQI
UniProt ID: Q03924
Variant: C -> Y at position 83-83
Variant annotation: in dbSNP:rs3807069
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MKRHEMVAKHLVMFYYFAQHLWPEQNIRDSFQKVTLRRYRKCGYENLQLRKGCKSVVECKQHKGDYSGLNQCLKTTLSKIFQCNKYVEVFHKISNSNRHKMRHTENKHFKCKECRKTFCMLSHLTQHKRIQTRVNFYKCEAYGRAFNWSSTLNKHKRIHTGEKPYKCKECGKAFNQTSHLIRHKRIHTEEKPYKCEECGKAFNQSSTLTTHNIIHTGEIPYKCEKCVRAFNQASKLTEHKLIHTGEKRYECEECGKAFNRSSKLTEHKYIHTGEKLYKCEECGKAFNQSSTLTTHKRIHSGEKPYKCEECGKAFKQFSNLTDHKKIHTGEKPYKCEECGKAFNQLSNLTRHKVIHTGEKPYKCGECGKAFNQSSALNTHKIIHTGENPHKCRESGKVFHLSSKLSTCKKIHTGEKLYKCEECGKAFNRSSTLIGHKRIHTGEKPYKCEECGKAFNQSSTLTTHKIIHTEEKQYKCDECGKAST
UniProt ID: Q03924
Variant: K -> N at position 112-112
Variant annotation: in dbSNP:rs3807068
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MKRHEMVAKHLVMFYYFAQHLWPEQNIRDSFQKVTLRRYRKCGYENLQLRKGCKSVVECKQHKGDYSGLNQCLKTTLSKIFQCNKYVEVFHKISNSNRHKMRHTENKHFKCKECRKTFCMLSHLTQHKRIQTRVNFYKCEAYGRAFNWSSTLNKHKRIHTGEKPYKCKECGKAFNQTSHLIRHKRIHTEEKPYKCEECGKAFNQSSTLTTHNIIHTGEIPYKCEKCVRAFNQASKLTEHKLIHTGEKRYECEECGKAFNRSSKLTEHKYIHTGEKLYKCEECGKAFNQSSTLTTHKRIHSGEKPYKCEECGKAFKQFSNLTDHKKIHTGEKPYKCEECGKAFNQLSNLTRHKVIHTGEKPYKCGECGKAFNQSSALNTHKIIHTGENPHKCRESGKVFHLSSKLSTCKKIHTGEKLYKCEECGKAFNRSSTLIGHKRIHTGEKPYKCEECGKAFNQSSTLTTHKIIHTEEKQYKCDECGKAST
UniProt ID: Q03936
Variant: A -> V at position 122-122
Variant annotation: in dbSNP:rs10265083
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MGPLTFRDVKIEFSLEEWQCLDTAQRNLYRDVMLENYRNLVFLGIAVSKPDLITWLEQGKEPWNLKRHEMVDKTPVMCSHFAQDVWPEHSIKDSFQKVILRTYGKYGHENLQLRKDHKSVDACKVYKGGYNGLNQCLTTTDSKIFQCDKYVKVFHKFPNVNRNKIRHTGKKPFKCKNRGKSFCMLSQLTQHKKIHTREYSYKCEECGKAFNWSSTLTKHKIIHTGEKPYKCEECGKAFNRSSNLTKHKIIHTGEKPYKCEECGKAFNRSSTLTKHKRIHTEEKPYKCEECGKAFNQFSILNKHKRIHMEDKPYKCEECGKAFRVFSILKKHKIIHTGEKPYKCEECGKAFNQFSNLTKHKIIHTGEKPYKCDECGKAFNQSSTLTKHKRIHTGEKPYKCEECGKAFKQSSTLTEHKIIHTGEKPYKCEKCGKAFSWSSAFTKHKRNHMEDKPYKCEECGKAFSVFSTLTKHKIIHTREKPYKCEECGKAFNQSSIFTKHKIIHTEGKSYKCEKCGNAFNQSSNLTARKIIYTGEKPYKYEECDKAFNKFSTLITHQIIYTGEKPCKHECGRAFNKSSNYTKEKLQT
UniProt ID: Q03936
Variant: Q -> R at position 492-492
Variant annotation: in dbSNP:rs17853615
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MGPLTFRDVKIEFSLEEWQCLDTAQRNLYRDVMLENYRNLVFLGIAVSKPDLITWLEQGKEPWNLKRHEMVDKTPVMCSHFAQDVWPEHSIKDSFQKVILRTYGKYGHENLQLRKDHKSVDACKVYKGGYNGLNQCLTTTDSKIFQCDKYVKVFHKFPNVNRNKIRHTGKKPFKCKNRGKSFCMLSQLTQHKKIHTREYSYKCEECGKAFNWSSTLTKHKIIHTGEKPYKCEECGKAFNRSSNLTKHKIIHTGEKPYKCEECGKAFNRSSTLTKHKRIHTEEKPYKCEECGKAFNQFSILNKHKRIHMEDKPYKCEECGKAFRVFSILKKHKIIHTGEKPYKCEECGKAFNQFSNLTKHKIIHTGEKPYKCDECGKAFNQSSTLTKHKRIHTGEKPYKCEECGKAFKQSSTLTEHKIIHTGEKPYKCEKCGKAFSWSSAFTKHKRNHMEDKPYKCEECGKAFSVFSTLTKHKIIHTREKPYKCEECGKAFNQSSIFTKHKIIHTEGKSYKCEKCGNAFNQSSNLTARKIIYTGEKPYKYEECDKAFNKFSTLITHQIIYTGEKPCKHECGRAFNKSSNYTKEKLQT
UniProt ID: Q03936
Variant: R -> H at position 527-527
Variant annotation: in dbSNP:rs10239197
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MGPLTFRDVKIEFSLEEWQCLDTAQRNLYRDVMLENYRNLVFLGIAVSKPDLITWLEQGKEPWNLKRHEMVDKTPVMCSHFAQDVWPEHSIKDSFQKVILRTYGKYGHENLQLRKDHKSVDACKVYKGGYNGLNQCLTTTDSKIFQCDKYVKVFHKFPNVNRNKIRHTGKKPFKCKNRGKSFCMLSQLTQHKKIHTREYSYKCEECGKAFNWSSTLTKHKIIHTGEKPYKCEECGKAFNRSSNLTKHKIIHTGEKPYKCEECGKAFNRSSTLTKHKRIHTEEKPYKCEECGKAFNQFSILNKHKRIHMEDKPYKCEECGKAFRVFSILKKHKIIHTGEKPYKCEECGKAFNQFSNLTKHKIIHTGEKPYKCDECGKAFNQSSTLTKHKRIHTGEKPYKCEECGKAFKQSSTLTEHKIIHTGEKPYKCEKCGKAFSWSSAFTKHKRNHMEDKPYKCEECGKAFSVFSTLTKHKIIHTREKPYKCEECGKAFNQSSIFTKHKIIHTEGKSYKCEKCGNAFNQSSNLTARKIIYTGEKPYKYEECDKAFNKFSTLITHQIIYTGEKPCKHECGRAFNKSSNYTKEKLQT
UniProt ID: Q03974
Variant: K -> N at position 29-29
Variant annotation: in strain: DL42 and RM 7004
Protein function: Involved in extracellular lipooligosaccharide (LOS) biosynthesis and virulence expression. Involved in the synthesis of the oligosaccharide moiety of the LOS molecule by adding GalNAc.
Reference sequence:
MSAIENIVISMENATERRKHITKQFESKKLSFSFFNAYTYQSINQSINQSINQSINQSINQSINQSINQSNSILHNIEESRILTKGEKGCLISHFLLWNKCVNENFEYLKIFEDDVILGENAEVFLNQNEWLKTRFDFNDIFIIRLETFLQPVKLEKQTKIPPFNSRNFDILKSTHWGTAGYIISQGAAKYVIEYLKNIPSDEIVAVDELIFNKLVDVDNYIVYQLNPAICIQELQANQSKSVLTSGLEKERQKRSKIRKKKTLKQRLTRIKENIIRALNRKKWKEQQRIKEMQGKEIVRFM
UniProt ID: Q03974
Variant: F -> L at position 106-106
Variant annotation: in strain: DL42 and RM 7004
Protein function: Involved in extracellular lipooligosaccharide (LOS) biosynthesis and virulence expression. Involved in the synthesis of the oligosaccharide moiety of the LOS molecule by adding GalNAc.
Reference sequence:
MSAIENIVISMENATERRKHITKQFESKKLSFSFFNAYTYQSINQSINQSINQSINQSINQSINQSINQSNSILHNIEESRILTKGEKGCLISHFLLWNKCVNENFEYLKIFEDDVILGENAEVFLNQNEWLKTRFDFNDIFIIRLETFLQPVKLEKQTKIPPFNSRNFDILKSTHWGTAGYIISQGAAKYVIEYLKNIPSDEIVAVDELIFNKLVDVDNYIVYQLNPAICIQELQANQSKSVLTSGLEKERQKRSKIRKKKTLKQRLTRIKENIIRALNRKKWKEQQRIKEMQGKEIVRFM
UniProt ID: Q03974
Variant: Q -> R at position 151-151
Variant annotation: in strain: DL42 and RM 7004
Protein function: Involved in extracellular lipooligosaccharide (LOS) biosynthesis and virulence expression. Involved in the synthesis of the oligosaccharide moiety of the LOS molecule by adding GalNAc.
Reference sequence:
MSAIENIVISMENATERRKHITKQFESKKLSFSFFNAYTYQSINQSINQSINQSINQSINQSINQSINQSNSILHNIEESRILTKGEKGCLISHFLLWNKCVNENFEYLKIFEDDVILGENAEVFLNQNEWLKTRFDFNDIFIIRLETFLQPVKLEKQTKIPPFNSRNFDILKSTHWGTAGYIISQGAAKYVIEYLKNIPSDEIVAVDELIFNKLVDVDNYIVYQLNPAICIQELQANQSKSVLTSGLEKERQKRSKIRKKKTLKQRLTRIKENIIRALNRKKWKEQQRIKEMQGKEIVRFM
UniProt ID: Q03974
Variant: S -> P at position 256-256
Variant annotation: in strain: RM 7004
Protein function: Involved in extracellular lipooligosaccharide (LOS) biosynthesis and virulence expression. Involved in the synthesis of the oligosaccharide moiety of the LOS molecule by adding GalNAc.
Reference sequence:
MSAIENIVISMENATERRKHITKQFESKKLSFSFFNAYTYQSINQSINQSINQSINQSINQSINQSINQSNSILHNIEESRILTKGEKGCLISHFLLWNKCVNENFEYLKIFEDDVILGENAEVFLNQNEWLKTRFDFNDIFIIRLETFLQPVKLEKQTKIPPFNSRNFDILKSTHWGTAGYIISQGAAKYVIEYLKNIPSDEIVAVDELIFNKLVDVDNYIVYQLNPAICIQELQANQSKSVLTSGLEKERQKRSKIRKKKTLKQRLTRIKENIIRALNRKKWKEQQRIKEMQGKEIVRFM
UniProt ID: Q03974
Variant: N -> D at position 274-274
Variant annotation: in strain: RM 7004
Protein function: Involved in extracellular lipooligosaccharide (LOS) biosynthesis and virulence expression. Involved in the synthesis of the oligosaccharide moiety of the LOS molecule by adding GalNAc.
Reference sequence:
MSAIENIVISMENATERRKHITKQFESKKLSFSFFNAYTYQSINQSINQSINQSINQSINQSINQSINQSNSILHNIEESRILTKGEKGCLISHFLLWNKCVNENFEYLKIFEDDVILGENAEVFLNQNEWLKTRFDFNDIFIIRLETFLQPVKLEKQTKIPPFNSRNFDILKSTHWGTAGYIISQGAAKYVIEYLKNIPSDEIVAVDELIFNKLVDVDNYIVYQLNPAICIQELQANQSKSVLTSGLEKERQKRSKIRKKKTLKQRLTRIKENIIRALNRKKWKEQQRIKEMQGKEIVRFM
UniProt ID: Q04064
Variant: I -> T at position 29-29
Variant annotation: in strain: 10901
Protein function: Forms anion selective channels.
Reference sequence:
MKKTLLAAALLAGFAGAAQAETSVTLYGIIDTGIGYNDVDFKVKGANADDSDFKYNHSRFGMINGVQNGSRWGLRGTEDLGDGLQAVFQLESGFNSGNGNSAQDGRLFGRQATIGLQSESWGRLDFGRQTNIASKYFGSIDPFGAGFGQANIGMGMSAMNTVRYDNMVMYQTPSYSGFQFGIGYSFSANDKDADAVNRVGFATADNVRAITTGLRYVNGPLNVALSYDQLNASNNQAQGEVDATPRSYGLGGSYDFEVVKLALAYARTTDGWFGGQGYPVAVTLPSGDKFGGFGVNTFADGFKANSYMVGLSAPIGGASNVFGSWQMVDPKLTGGDEKMNVFSLGYTYDLSKRTNLYAYGSYAKNFAFLEDAKSTAVGVGIRHRF
UniProt ID: Q04118
Variant: R -> C at position 49-49
Variant annotation: in allele Gl8; forms a disulfide-bonded heterodimer with salivary perodixase
Reference sequence:
MLLILLSVALLALSSAQSLNEDVSQEESPSVISGKPEGRRPQGGNQPQRTPPPPGKPEGRPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGQPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPHPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNKPQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPSQGGNKPQGPPPHPGKPQGPPPQEGNKPQRPPPPGRPQGPPPPGGNPQQPLPPPAGKPQGPPPPPQGGRPHRPPQGQPPQ
UniProt ID: Q04118
Variant: P -> Q at position 207-207
Variant annotation: in dbSNP:rs113564509
Reference sequence:
MLLILLSVALLALSSAQSLNEDVSQEESPSVISGKPEGRRPQGGNQPQRTPPPPGKPEGRPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGQPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPHPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPPQGGNKPQGPPPRPGKPEGPPPQGGNQSQGPPPRPGKPEGPPSQGGNKPQGPPPHPGKPQGPPPQEGNKPQRPPPPGRPQGPPPPGGNPQQPLPPPAGKPQGPPPPPQGGRPHRPPQGQPPQ
UniProt ID: Q04446
Variant: R -> G at position 190-190
Variant annotation: in dbSNP:rs2229519
Protein function: Required for normal glycogen accumulation . The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Reference sequence:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
UniProt ID: Q04446
Variant: L -> P at position 224-224
Variant annotation: in GSD4; loss of activity; dbSNP:rs137852886
Effect: loss
Target: activity
Protein function: Required for normal glycogen accumulation . The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Reference sequence:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
UniProt ID: Q04446
Variant: F -> L at position 257-257
Variant annotation: in GSD4; loss of activity; dbSNP:rs137852887
Effect: loss
Target: activity
Protein function: Required for normal glycogen accumulation . The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Reference sequence:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
UniProt ID: Q04446
Variant: T -> S at position 265-265
Variant annotation: in dbSNP:rs17856389
Protein function: Required for normal glycogen accumulation . The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Reference sequence:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
UniProt ID: Q04446
Variant: Y -> S at position 329-329
Variant annotation: in GSD4; non-progressive form; impairs protein stability; 50% residual activity; dbSNP:rs80338671
Protein function: Required for normal glycogen accumulation . The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Reference sequence:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
UniProt ID: Q04446
Variant: I -> V at position 334-334
Variant annotation: in dbSNP:rs2172397
Protein function: Required for normal glycogen accumulation . The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Reference sequence:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
UniProt ID: Q04446
Variant: T -> A at position 507-507
Variant annotation: in dbSNP:rs2228389
Protein function: Required for normal glycogen accumulation . The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Reference sequence:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
UniProt ID: Q04446
Variant: R -> C at position 515-515
Variant annotation: in GSD4; loss of activity; dbSNP:rs80338672
Effect: loss
Target: activity
Protein function: Required for normal glycogen accumulation . The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Reference sequence:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
UniProt ID: Q04446
Variant: R -> H at position 515-515
Variant annotation: in APBN; dbSNP:rs201958741
Protein function: Required for normal glycogen accumulation . The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Reference sequence:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
UniProt ID: Q04446
Variant: R -> Q at position 524-524
Variant annotation: in GSD4 and APBN; dbSNP:rs80338673
Protein function: Required for normal glycogen accumulation . The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Reference sequence:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
UniProt ID: Q04446
Variant: H -> R at position 545-545
Variant annotation: in GSD4; dbSNP:rs137852889
Protein function: Required for normal glycogen accumulation . The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Reference sequence:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
UniProt ID: Q04446
Variant: H -> R at position 628-628
Variant annotation: in GSD4; childhood neuromuscular form; 15 to 25% residual activity; dbSNP:rs137852891
Protein function: Required for normal glycogen accumulation . The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).
Reference sequence:
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
UniProt ID: Q04473
Variant: M -> A at position 61-61
Variant annotation: in serotype 8
Protein function: Involved in the transport of the toxin RTX-III.
Reference sequence:
MESQMPFNEKIDYGLHALVILAQYHNVAVNPEEVKHKFDLDGKGLDLVAWLLAAKSLELKMKRVKKSIERLPFIHLPALIWRDDGQHVILMKIDTQTNRYLIFDLEERNPKVLSAAEFHEIFQGGMILITSRASIMGQLAKFDFTWFIPAVIKYRKIFVETIIVSIFLQLFALITPLFFQVVMDKVLVHRGFSTLNVITVALSVVVIFEIVLSGLRTYIFSHSTSRIDVELGAKLFRHLLALPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTIVILLSLPCYIAWSIFISPILRRRLDEKFARNADNQSFLVESVSAIDTIKALAVTPQMTNIWDKQLASYVSADFRVTVLATIGQQGVQLIQKTVMIINLWLGAHLVISGDLSIGQLITFNMLSGQVIAPVVRLAQLWQDFQQVGISITRLGDVLNSPTENYQGKLSLPEIFGDIAFKHIRFRYKPDAPIILDDVNLSVKQGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRDNIALTDPSMSMERVIYAAKLAGAHDFISELREGYNTIVGELGAGLSGGQRQRIAIARALVNNPRILIFDEATSALDYESEHIIMQNMQKICHGRTVIIIAHRLSTVKNADRIIVMEKGHIVEQGKHNQLLENENGLYYYLNQLQSN
UniProt ID: Q04473
Variant: M -> T at position 91-91
Variant annotation: in serotype 8
Protein function: Involved in the transport of the toxin RTX-III.
Reference sequence:
MESQMPFNEKIDYGLHALVILAQYHNVAVNPEEVKHKFDLDGKGLDLVAWLLAAKSLELKMKRVKKSIERLPFIHLPALIWRDDGQHVILMKIDTQTNRYLIFDLEERNPKVLSAAEFHEIFQGGMILITSRASIMGQLAKFDFTWFIPAVIKYRKIFVETIIVSIFLQLFALITPLFFQVVMDKVLVHRGFSTLNVITVALSVVVIFEIVLSGLRTYIFSHSTSRIDVELGAKLFRHLLALPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTIVILLSLPCYIAWSIFISPILRRRLDEKFARNADNQSFLVESVSAIDTIKALAVTPQMTNIWDKQLASYVSADFRVTVLATIGQQGVQLIQKTVMIINLWLGAHLVISGDLSIGQLITFNMLSGQVIAPVVRLAQLWQDFQQVGISITRLGDVLNSPTENYQGKLSLPEIFGDIAFKHIRFRYKPDAPIILDDVNLSVKQGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRDNIALTDPSMSMERVIYAAKLAGAHDFISELREGYNTIVGELGAGLSGGQRQRIAIARALVNNPRILIFDEATSALDYESEHIIMQNMQKICHGRTVIIIAHRLSTVKNADRIIVMEKGHIVEQGKHNQLLENENGLYYYLNQLQSN
UniProt ID: Q04473
Variant: GM -> DV at position 125-126
Variant annotation: in serotype 8
Protein function: Involved in the transport of the toxin RTX-III.
Reference sequence:
MESQMPFNEKIDYGLHALVILAQYHNVAVNPEEVKHKFDLDGKGLDLVAWLLAAKSLELKMKRVKKSIERLPFIHLPALIWRDDGQHVILMKIDTQTNRYLIFDLEERNPKVLSAAEFHEIFQGGMILITSRASIMGQLAKFDFTWFIPAVIKYRKIFVETIIVSIFLQLFALITPLFFQVVMDKVLVHRGFSTLNVITVALSVVVIFEIVLSGLRTYIFSHSTSRIDVELGAKLFRHLLALPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTIVILLSLPCYIAWSIFISPILRRRLDEKFARNADNQSFLVESVSAIDTIKALAVTPQMTNIWDKQLASYVSADFRVTVLATIGQQGVQLIQKTVMIINLWLGAHLVISGDLSIGQLITFNMLSGQVIAPVVRLAQLWQDFQQVGISITRLGDVLNSPTENYQGKLSLPEIFGDIAFKHIRFRYKPDAPIILDDVNLSVKQGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRDNIALTDPSMSMERVIYAAKLAGAHDFISELREGYNTIVGELGAGLSGGQRQRIAIARALVNNPRILIFDEATSALDYESEHIIMQNMQKICHGRTVIIIAHRLSTVKNADRIIVMEKGHIVEQGKHNQLLENENGLYYYLNQLQSN