sujigwak/NVAR huggingface dataset:
UniProt ID: Q06730
Variant: G -> R at position 614-614
Variant annotation: in dbSNP:rs12256916
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MNKVEQKSQESVSFKDVTVGFTQEEWQHLDPSQRALYRDVMLENYSNLVSVGYCVHKPEVIFRLQQGEEPWKQEEEFPSQSFPVWTADHLKERSQENQSKHLWEVVFINNEMLTKEQGDVIGIPFNVDVSSFPSRKMFCQCDSCGMSFNTVSELVISKINYLGKKSDEFNACGKLLLNIKHDETHTQEKNEVLKNRNTLSHHEETLQHEKIQTLEHNFEYSICQETLLEKAVFNTQKRENAEENNCDYNEFGRTLCDSSSLLFHQISPSRDNHYEFSDCEKFLCVKSTLSKPHGVSMKHYDCGESGNNFRRKLCLSHLQKGDKGEKHFECNECGKAFWEKSHLTRHQRVHTGQKPFQCNECEKAFWDKSNLTKHQRSHTGEKPFECNECGKAFSHKSALTLHQRTHTGEKPYQCNACGKTFCQKSDLTKHQRTHTGLKPYECYECGKSFRVTSHLKVHQRTHTGEKPFECLECGKSFSEKSNLTQHQRIHIGDKSYECNACGKTFYHKSLLTRHQIIHTGWKPYECYECGKTFCLKSDLTVHQRTHTGQKPFACPECGKFFSHKSTLSQHYRTHTGEKPYECHECGKIFYNKSYLTKHNRTHTGEKPYECNECGKAFYQKSQLTQHQRIHIGEKPYKCNECGKAFCHKSALIVHQRTHTQEKPYKCNECGKSFCVKSGLIFHERKHTGEKPYECNECGKFFRHKSSLTVHHRAHTGEKSCQCNECGKIFYRKSELAQHQRSHTGEKPYECNTCRKTFSQKSNLIVHQRRHIGENLMNEMDIRNFQPQVSLHNASEYSHCGESPDDILNVQ
UniProt ID: Q06730
Variant: D -> H at position 804-804
Variant annotation: in dbSNP:rs10508862
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MNKVEQKSQESVSFKDVTVGFTQEEWQHLDPSQRALYRDVMLENYSNLVSVGYCVHKPEVIFRLQQGEEPWKQEEEFPSQSFPVWTADHLKERSQENQSKHLWEVVFINNEMLTKEQGDVIGIPFNVDVSSFPSRKMFCQCDSCGMSFNTVSELVISKINYLGKKSDEFNACGKLLLNIKHDETHTQEKNEVLKNRNTLSHHEETLQHEKIQTLEHNFEYSICQETLLEKAVFNTQKRENAEENNCDYNEFGRTLCDSSSLLFHQISPSRDNHYEFSDCEKFLCVKSTLSKPHGVSMKHYDCGESGNNFRRKLCLSHLQKGDKGEKHFECNECGKAFWEKSHLTRHQRVHTGQKPFQCNECEKAFWDKSNLTKHQRSHTGEKPFECNECGKAFSHKSALTLHQRTHTGEKPYQCNACGKTFCQKSDLTKHQRTHTGLKPYECYECGKSFRVTSHLKVHQRTHTGEKPFECLECGKSFSEKSNLTQHQRIHIGDKSYECNACGKTFYHKSLLTRHQIIHTGWKPYECYECGKTFCLKSDLTVHQRTHTGQKPFACPECGKFFSHKSTLSQHYRTHTGEKPYECHECGKIFYNKSYLTKHNRTHTGEKPYECNECGKAFYQKSQLTQHQRIHIGEKPYKCNECGKAFCHKSALIVHQRTHTQEKPYKCNECGKSFCVKSGLIFHERKHTGEKPYECNECGKFFRHKSSLTVHHRAHTGEKSCQCNECGKIFYRKSELAQHQRSHTGEKPYECNTCRKTFSQKSNLIVHQRRHIGENLMNEMDIRNFQPQVSLHNASEYSHCGESPDDILNVQ
UniProt ID: Q06891
Variant: V -> A at position 33-33
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: K -> R at position 36-36
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: RIPRTI -> KVPQTV at position 46-51
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: RS -> KF at position 67-68
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: R -> K at position 104-104
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: L -> S at position 116-116
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: D -> N at position 125-125
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: I -> T at position 136-136
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: R -> H at position 137-137
Variant annotation: in strain: ATCC 4108
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: N -> D at position 144-144
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: IYDRTC -> NYGRTG at position 152-157
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: N -> D at position 162-162
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: F -> L at position 171-171
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06891
Variant: P -> S at position 180-180
Variant annotation: in strain: ATCC 7754
Protein function: Plays a role in 2-micron plasmid partitioning. Antagonizes transcriptional repression of recombinase FLP by REP1-REP2 . Regulates both stability and copy number of the plasmid by blocking the formation of the REP1-REP2 repressor complex .
Reference sequence:
MPYKTAIDCIEELATQCFLSKLTDDDVSTFRRVCSKENDIIKLALRIPRTIDYTSILRLLYDTLPLRSLSFNEALPLFCYSIDPAQQRQCDLRFYLRDVVKLARPRKRLEMQKALLQWLPSLLSDVTLQLLNDIRIRFEEIQPNIRQTVLQIYDRTCYPSLNFEHPNLGVFPETDSIFEPV
UniProt ID: Q06964
Variant: MFAFICLLAIAS -> LAIAN at position 1-12
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: Q06964
Variant: SK -> AN at position 21-22
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: Q06964
Variant: IEK -> VEA at position 30-32
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: Q06964
Variant: KFVDSFNKI -> RFVAEFNKK at position 44-52
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: Q06964
Variant: T -> V at position 81-81
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: Q06964
Variant: QVK -> KVT at position 86-88
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: Q06964
Variant: KE -> AQ at position 102-103
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: Q06964
Variant: D -> N at position 138-138
Protein function: Involved in the destruction of human tissue by E.histolytica. Can abolish adhesion and degrade matrix proteins such as collagen, laminin and fibronectin. May play an important role in pathogenicity.
Reference sequence:
MFAFICLLAIASAIDFNTWASKNNKHFTAIEKLRRRAIFNMNAKFVDSFNKIGSFKLSVDGPFAAMTNEEYRTLLKSKRTTEENGQVKYLNIQAPESVDWRKEGKVTPIRDQAQCGSCYTFGSLAALEGRLLIEKGGDANTLDLSEEHMVQCTRDNGNNGCNGGLGSNVYDYIIEHGVAKESDYPYTGSDSTCKTNVKSFAKITGYTKVPRNNEAELKAALSQGLVDVSIDASSAKFQLYKSGAYTDTKCKNNYFALNHEVCAVGYGVVDGKECWIVRNSWGTGWGDKGYINMVIEGNTCGVATDPLYPTGVQYL
UniProt ID: Q07001
Variant: L -> P at position 42-42
Variant annotation: in CMS3B; results in reduced gating efficiency; slows opening of the channel; decreases probability that the channel will open in response to ACh
Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Reference sequence:
MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI
UniProt ID: Q07001
Variant: I -> K at position 79-79
Variant annotation: in CMS3B; prevents expression of the AChR on the cell surface; is a null mutation; dbSNP:rs121909509
Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Reference sequence:
MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI
UniProt ID: Q07001
Variant: E -> K at position 80-80
Variant annotation: in CMS3B; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state; dbSNP:rs121909504
Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Reference sequence:
MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI
UniProt ID: Q07001
Variant: F -> L at position 95-95
Variant annotation: in LMPS; dbSNP:rs121909506
Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Reference sequence:
MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI
UniProt ID: Q07001
Variant: V -> L at position 114-114
Variant annotation: has no appreciable kinetic effects; allows for robust AChR expression; dbSNP:rs760395222
Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Reference sequence:
MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI
UniProt ID: Q07001
Variant: P -> Q at position 271-271
Variant annotation: in CMS3B; burst duration was decreased and disassociation of ACh was increased resulting in brief channel opening episodes; shows abnormal association with alpha CHRNA1 subunit resulting in a decreased number of fully assembled AChRs; dbSNP:rs121909503
Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Reference sequence:
MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI
UniProt ID: Q07001
Variant: Q -> E at position 288-288
Variant annotation: in dbSNP:rs41265127
Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Reference sequence:
MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI
UniProt ID: Q07001
Variant: S -> F at position 289-289
Variant annotation: in CMS3A; delayed closure of AchR ion channels, increasing the propensity for open-channel block, as well as a reduced rate of channel opening; dbSNP:rs121909502
Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Reference sequence:
MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI
UniProt ID: Q07001
Variant: D -> E at position 398-398
Variant annotation: in a breast cancer sample; somatic mutation; dbSNP:rs749461400
Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Reference sequence:
MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI
UniProt ID: Q07001
Variant: E -> K at position 402-402
Variant annotation: in CMS3C; results in reduced expression of the AChR at the cell surface; impairs normal clustering of the AChR channel with RAPSN; dbSNP:rs145955590
Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Reference sequence:
MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSVAISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYSYNVQDKRFI