sujigwak/NVAR huggingface dataset:
UniProt ID: P28907
Variant: R -> W at position 140-140
Variant annotation: seems to contribute to the development of type II diabetes; 50% reduction in activity; dbSNP:rs1800561
Protein function: Synthesizes the second messengers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger for glucose-induced insulin secretion. Also has cADPr hydrolase activity. Also moonlights as a receptor in cells of the immune system.
Reference sequence:
MANCEFSPVSGDKPCCRLSRRAQLCLGVSILVLILVVVLAVVVPRWRQQWSGPGTTKRFPETVLARCVKYTEIHPEMRHVDCQSVWDAFKGAFISKHPCNITEEDYQPLMKLGTQTVPCNKILLWSRIKDLAHQFTQVQRDMFTLEDTLLGYLADDLTWCGEFNTSKINYQSCPDWRKDCSNNPVSVFWKTVSRRFAEAACDVVHVMLNGSRSKIFDKNSTFGSVEVHNLQPEKVQTLEAWVIHGGREDSRDLCQDPTIKELESIISKRNIQFSCKNIYRPDKFLQCVKNPEDSSCTSEI
UniProt ID: P28908
Variant: C -> F at position 273-273
Variant annotation: in dbSNP:rs2230624
Protein function: Receptor for TNFSF8/CD30L . May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B .
Reference sequence:
MRVLLAALGLLFLGALRAFPQDRPFEDTCHGNPSHYYDKAVRRCCYRCPMGLFPTQQCPQRPTDCRKQCEPDYYLDEADRCTACVTCSRDDLVEKTPCAWNSSRVCECRPGMFCSTSAVNSCARCFFHSVCPAGMIVKFPGTAQKNTVCEPASPGVSPACASPENCKEPSSGTIPQAKPTPVSPATSSASTMPVRGGTRLAQEAASKLTRAPDSPSSVGRPSSDPGLSPTQPCPEGSGDCRKQCEPDYYLDEAGRCTACVSCSRDDLVEKTPCAWNSSRTCECRPGMICATSATNSCARCVPYPICAAETVTKPQDMAEKDTTFEAPPLGTQPDCNPTPENGEAPASTSPTQSLLVDSQASKTLPIPTSAPVALSSTGKPVLDAGPVLFWVILVLVVVVGSSAFLLCHRRACRKRIRQKLHLCYPVQTSQPKLELVDSRPRRSSTQLRSGASVTEPVAEERGLMSQPLMETCHSVGAAYLESLPLQDASPAGGPSSPRDLPEPRVSTEHTNNKIEKIYIMKADTVIVGTVKAELPEGRGLAGPAEPELEEELEADHTPHYPEQETEPPLGSCSDVMLSVEEEGKEDPLPTAASGK
UniProt ID: P28908
Variant: C -> Y at position 273-273
Variant annotation: in dbSNP:rs2230624
Protein function: Receptor for TNFSF8/CD30L . May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B .
Reference sequence:
MRVLLAALGLLFLGALRAFPQDRPFEDTCHGNPSHYYDKAVRRCCYRCPMGLFPTQQCPQRPTDCRKQCEPDYYLDEADRCTACVTCSRDDLVEKTPCAWNSSRVCECRPGMFCSTSAVNSCARCFFHSVCPAGMIVKFPGTAQKNTVCEPASPGVSPACASPENCKEPSSGTIPQAKPTPVSPATSSASTMPVRGGTRLAQEAASKLTRAPDSPSSVGRPSSDPGLSPTQPCPEGSGDCRKQCEPDYYLDEAGRCTACVSCSRDDLVEKTPCAWNSSRTCECRPGMICATSATNSCARCVPYPICAAETVTKPQDMAEKDTTFEAPPLGTQPDCNPTPENGEAPASTSPTQSLLVDSQASKTLPIPTSAPVALSSTGKPVLDAGPVLFWVILVLVVVVGSSAFLLCHRRACRKRIRQKLHLCYPVQTSQPKLELVDSRPRRSSTQLRSGASVTEPVAEERGLMSQPLMETCHSVGAAYLESLPLQDASPAGGPSSPRDLPEPRVSTEHTNNKIEKIYIMKADTVIVGTVKAELPEGRGLAGPAEPELEEELEADHTPHYPEQETEPPLGSCSDVMLSVEEEGKEDPLPTAASGK
UniProt ID: P28908
Variant: C -> R at position 297-297
Variant annotation: in dbSNP:rs1763642
Protein function: Receptor for TNFSF8/CD30L . May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B .
Reference sequence:
MRVLLAALGLLFLGALRAFPQDRPFEDTCHGNPSHYYDKAVRRCCYRCPMGLFPTQQCPQRPTDCRKQCEPDYYLDEADRCTACVTCSRDDLVEKTPCAWNSSRVCECRPGMFCSTSAVNSCARCFFHSVCPAGMIVKFPGTAQKNTVCEPASPGVSPACASPENCKEPSSGTIPQAKPTPVSPATSSASTMPVRGGTRLAQEAASKLTRAPDSPSSVGRPSSDPGLSPTQPCPEGSGDCRKQCEPDYYLDEAGRCTACVSCSRDDLVEKTPCAWNSSRTCECRPGMICATSATNSCARCVPYPICAAETVTKPQDMAEKDTTFEAPPLGTQPDCNPTPENGEAPASTSPTQSLLVDSQASKTLPIPTSAPVALSSTGKPVLDAGPVLFWVILVLVVVVGSSAFLLCHRRACRKRIRQKLHLCYPVQTSQPKLELVDSRPRRSSTQLRSGASVTEPVAEERGLMSQPLMETCHSVGAAYLESLPLQDASPAGGPSSPRDLPEPRVSTEHTNNKIEKIYIMKADTVIVGTVKAELPEGRGLAGPAEPELEEELEADHTPHYPEQETEPPLGSCSDVMLSVEEEGKEDPLPTAASGK
UniProt ID: P28908
Variant: P -> S at position 314-314
Variant annotation: in dbSNP:rs2275170
Protein function: Receptor for TNFSF8/CD30L . May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B .
Reference sequence:
MRVLLAALGLLFLGALRAFPQDRPFEDTCHGNPSHYYDKAVRRCCYRCPMGLFPTQQCPQRPTDCRKQCEPDYYLDEADRCTACVTCSRDDLVEKTPCAWNSSRVCECRPGMFCSTSAVNSCARCFFHSVCPAGMIVKFPGTAQKNTVCEPASPGVSPACASPENCKEPSSGTIPQAKPTPVSPATSSASTMPVRGGTRLAQEAASKLTRAPDSPSSVGRPSSDPGLSPTQPCPEGSGDCRKQCEPDYYLDEAGRCTACVSCSRDDLVEKTPCAWNSSRTCECRPGMICATSATNSCARCVPYPICAAETVTKPQDMAEKDTTFEAPPLGTQPDCNPTPENGEAPASTSPTQSLLVDSQASKTLPIPTSAPVALSSTGKPVLDAGPVLFWVILVLVVVVGSSAFLLCHRRACRKRIRQKLHLCYPVQTSQPKLELVDSRPRRSSTQLRSGASVTEPVAEERGLMSQPLMETCHSVGAAYLESLPLQDASPAGGPSSPRDLPEPRVSTEHTNNKIEKIYIMKADTVIVGTVKAELPEGRGLAGPAEPELEEELEADHTPHYPEQETEPPLGSCSDVMLSVEEEGKEDPLPTAASGK
UniProt ID: P28908
Variant: S -> G at position 402-402
Variant annotation: in dbSNP:rs2230625
Protein function: Receptor for TNFSF8/CD30L . May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B .
Reference sequence:
MRVLLAALGLLFLGALRAFPQDRPFEDTCHGNPSHYYDKAVRRCCYRCPMGLFPTQQCPQRPTDCRKQCEPDYYLDEADRCTACVTCSRDDLVEKTPCAWNSSRVCECRPGMFCSTSAVNSCARCFFHSVCPAGMIVKFPGTAQKNTVCEPASPGVSPACASPENCKEPSSGTIPQAKPTPVSPATSSASTMPVRGGTRLAQEAASKLTRAPDSPSSVGRPSSDPGLSPTQPCPEGSGDCRKQCEPDYYLDEAGRCTACVSCSRDDLVEKTPCAWNSSRTCECRPGMICATSATNSCARCVPYPICAAETVTKPQDMAEKDTTFEAPPLGTQPDCNPTPENGEAPASTSPTQSLLVDSQASKTLPIPTSAPVALSSTGKPVLDAGPVLFWVILVLVVVVGSSAFLLCHRRACRKRIRQKLHLCYPVQTSQPKLELVDSRPRRSSTQLRSGASVTEPVAEERGLMSQPLMETCHSVGAAYLESLPLQDASPAGGPSSPRDLPEPRVSTEHTNNKIEKIYIMKADTVIVGTVKAELPEGRGLAGPAEPELEEELEADHTPHYPEQETEPPLGSCSDVMLSVEEEGKEDPLPTAASGK
UniProt ID: P28908
Variant: Q -> R at position 466-466
Variant annotation: in dbSNP:rs35511003
Protein function: Receptor for TNFSF8/CD30L . May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B .
Reference sequence:
MRVLLAALGLLFLGALRAFPQDRPFEDTCHGNPSHYYDKAVRRCCYRCPMGLFPTQQCPQRPTDCRKQCEPDYYLDEADRCTACVTCSRDDLVEKTPCAWNSSRVCECRPGMFCSTSAVNSCARCFFHSVCPAGMIVKFPGTAQKNTVCEPASPGVSPACASPENCKEPSSGTIPQAKPTPVSPATSSASTMPVRGGTRLAQEAASKLTRAPDSPSSVGRPSSDPGLSPTQPCPEGSGDCRKQCEPDYYLDEAGRCTACVSCSRDDLVEKTPCAWNSSRTCECRPGMICATSATNSCARCVPYPICAAETVTKPQDMAEKDTTFEAPPLGTQPDCNPTPENGEAPASTSPTQSLLVDSQASKTLPIPTSAPVALSSTGKPVLDAGPVLFWVILVLVVVVGSSAFLLCHRRACRKRIRQKLHLCYPVQTSQPKLELVDSRPRRSSTQLRSGASVTEPVAEERGLMSQPLMETCHSVGAAYLESLPLQDASPAGGPSSPRDLPEPRVSTEHTNNKIEKIYIMKADTVIVGTVKAELPEGRGLAGPAEPELEEELEADHTPHYPEQETEPPLGSCSDVMLSVEEEGKEDPLPTAASGK
UniProt ID: P28999
Variant: F -> L at position 3-3
Variant annotation: in strain: CBS 6556
Protein function: Has both inulase and invertase activity.
Reference sequence:
MKFAYSLLLPLAGVSASVINYKRDGDSKAITNTTFSLNRPSVHFTPSHGWMNDPNGLWYDAKEEDWHLYYQYNPAATIWGTPLYWGHAVSKDLTSWTDYGASLGPGSDDAGAFSGSMVIDYNNTSGFFNSSVDPRQRAVAVWTLSKGPSQAQHISYSLDGGYTFEHYTDNAVLDINSSNFRDPKVFWHEGENGEDGRWIMAVAESQVFSVLFYSSPNLKNWTLESNFTHHGWTGTQYECPGLVKVPYDSVVDSSNSSDSKPDSAWVLFVSINPGGPLGGSVTQYFVGDFNGTHFTPIDGQTRFLDMGKDYYALQTFFNTPNEKDVYGIAWASNWQYAQQAPTDPWRSSMSLVRQFTLKDFSTNPNSADVVLNSQPVLNYDALRKNGTTYSITNYTVTSENGKKIKLDNPSGSLEFHLEYVFNGSPDIKSNVFADLSLYFKGNNDDNEYLRLGYETNGGAFFLDRGHTKIPFVKENLFFTHQLAVTNPVSNYTTNVFDVYGVIDKNIIELYFDNGNVVSTNTFFFSTNNVIGEIDIKSPYDKAYTINSFNVTQFNV
UniProt ID: P28999
Variant: E -> Q at position 165-165
Variant annotation: in strain: CBS 6556
Protein function: Has both inulase and invertase activity.
Reference sequence:
MKFAYSLLLPLAGVSASVINYKRDGDSKAITNTTFSLNRPSVHFTPSHGWMNDPNGLWYDAKEEDWHLYYQYNPAATIWGTPLYWGHAVSKDLTSWTDYGASLGPGSDDAGAFSGSMVIDYNNTSGFFNSSVDPRQRAVAVWTLSKGPSQAQHISYSLDGGYTFEHYTDNAVLDINSSNFRDPKVFWHEGENGEDGRWIMAVAESQVFSVLFYSSPNLKNWTLESNFTHHGWTGTQYECPGLVKVPYDSVVDSSNSSDSKPDSAWVLFVSINPGGPLGGSVTQYFVGDFNGTHFTPIDGQTRFLDMGKDYYALQTFFNTPNEKDVYGIAWASNWQYAQQAPTDPWRSSMSLVRQFTLKDFSTNPNSADVVLNSQPVLNYDALRKNGTTYSITNYTVTSENGKKIKLDNPSGSLEFHLEYVFNGSPDIKSNVFADLSLYFKGNNDDNEYLRLGYETNGGAFFLDRGHTKIPFVKENLFFTHQLAVTNPVSNYTTNVFDVYGVIDKNIIELYFDNGNVVSTNTFFFSTNNVIGEIDIKSPYDKAYTINSFNVTQFNV
UniProt ID: P28999
Variant: T -> S at position 168-168
Variant annotation: in strain: CBS 6556
Protein function: Has both inulase and invertase activity.
Reference sequence:
MKFAYSLLLPLAGVSASVINYKRDGDSKAITNTTFSLNRPSVHFTPSHGWMNDPNGLWYDAKEEDWHLYYQYNPAATIWGTPLYWGHAVSKDLTSWTDYGASLGPGSDDAGAFSGSMVIDYNNTSGFFNSSVDPRQRAVAVWTLSKGPSQAQHISYSLDGGYTFEHYTDNAVLDINSSNFRDPKVFWHEGENGEDGRWIMAVAESQVFSVLFYSSPNLKNWTLESNFTHHGWTGTQYECPGLVKVPYDSVVDSSNSSDSKPDSAWVLFVSINPGGPLGGSVTQYFVGDFNGTHFTPIDGQTRFLDMGKDYYALQTFFNTPNEKDVYGIAWASNWQYAQQAPTDPWRSSMSLVRQFTLKDFSTNPNSADVVLNSQPVLNYDALRKNGTTYSITNYTVTSENGKKIKLDNPSGSLEFHLEYVFNGSPDIKSNVFADLSLYFKGNNDDNEYLRLGYETNGGAFFLDRGHTKIPFVKENLFFTHQLAVTNPVSNYTTNVFDVYGVIDKNIIELYFDNGNVVSTNTFFFSTNNVIGEIDIKSPYDKAYTINSFNVTQFNV
UniProt ID: P28999
Variant: V -> A at position 251-251
Variant annotation: in strain: CBS 6556
Protein function: Has both inulase and invertase activity.
Reference sequence:
MKFAYSLLLPLAGVSASVINYKRDGDSKAITNTTFSLNRPSVHFTPSHGWMNDPNGLWYDAKEEDWHLYYQYNPAATIWGTPLYWGHAVSKDLTSWTDYGASLGPGSDDAGAFSGSMVIDYNNTSGFFNSSVDPRQRAVAVWTLSKGPSQAQHISYSLDGGYTFEHYTDNAVLDINSSNFRDPKVFWHEGENGEDGRWIMAVAESQVFSVLFYSSPNLKNWTLESNFTHHGWTGTQYECPGLVKVPYDSVVDSSNSSDSKPDSAWVLFVSINPGGPLGGSVTQYFVGDFNGTHFTPIDGQTRFLDMGKDYYALQTFFNTPNEKDVYGIAWASNWQYAQQAPTDPWRSSMSLVRQFTLKDFSTNPNSADVVLNSQPVLNYDALRKNGTTYSITNYTVTSENGKKIKLDNPSGSLEFHLEYVFNGSPDIKSNVFADLSLYFKGNNDDNEYLRLGYETNGGAFFLDRGHTKIPFVKENLFFTHQLAVTNPVSNYTTNVFDVYGVIDKNIIELYFDNGNVVSTNTFFFSTNNVIGEIDIKSPYDKAYTINSFNVTQFNV
UniProt ID: P28999
Variant: D -> DS at position 252-252
Variant annotation: in strain: CBS 6556
Protein function: Has both inulase and invertase activity.
Reference sequence:
MKFAYSLLLPLAGVSASVINYKRDGDSKAITNTTFSLNRPSVHFTPSHGWMNDPNGLWYDAKEEDWHLYYQYNPAATIWGTPLYWGHAVSKDLTSWTDYGASLGPGSDDAGAFSGSMVIDYNNTSGFFNSSVDPRQRAVAVWTLSKGPSQAQHISYSLDGGYTFEHYTDNAVLDINSSNFRDPKVFWHEGENGEDGRWIMAVAESQVFSVLFYSSPNLKNWTLESNFTHHGWTGTQYECPGLVKVPYDSVVDSSNSSDSKPDSAWVLFVSINPGGPLGGSVTQYFVGDFNGTHFTPIDGQTRFLDMGKDYYALQTFFNTPNEKDVYGIAWASNWQYAQQAPTDPWRSSMSLVRQFTLKDFSTNPNSADVVLNSQPVLNYDALRKNGTTYSITNYTVTSENGKKIKLDNPSGSLEFHLEYVFNGSPDIKSNVFADLSLYFKGNNDDNEYLRLGYETNGGAFFLDRGHTKIPFVKENLFFTHQLAVTNPVSNYTTNVFDVYGVIDKNIIELYFDNGNVVSTNTFFFSTNNVIGEIDIKSPYDKAYTINSFNVTQFNV
UniProt ID: P28999
Variant: G -> D at position 299-299
Variant annotation: in strain: CBS 6556
Protein function: Has both inulase and invertase activity.
Reference sequence:
MKFAYSLLLPLAGVSASVINYKRDGDSKAITNTTFSLNRPSVHFTPSHGWMNDPNGLWYDAKEEDWHLYYQYNPAATIWGTPLYWGHAVSKDLTSWTDYGASLGPGSDDAGAFSGSMVIDYNNTSGFFNSSVDPRQRAVAVWTLSKGPSQAQHISYSLDGGYTFEHYTDNAVLDINSSNFRDPKVFWHEGENGEDGRWIMAVAESQVFSVLFYSSPNLKNWTLESNFTHHGWTGTQYECPGLVKVPYDSVVDSSNSSDSKPDSAWVLFVSINPGGPLGGSVTQYFVGDFNGTHFTPIDGQTRFLDMGKDYYALQTFFNTPNEKDVYGIAWASNWQYAQQAPTDPWRSSMSLVRQFTLKDFSTNPNSADVVLNSQPVLNYDALRKNGTTYSITNYTVTSENGKKIKLDNPSGSLEFHLEYVFNGSPDIKSNVFADLSLYFKGNNDDNEYLRLGYETNGGAFFLDRGHTKIPFVKENLFFTHQLAVTNPVSNYTTNVFDVYGVIDKNIIELYFDNGNVVSTNTFFFSTNNVIGEIDIKSPYDKAYTINSFNVTQFNV
UniProt ID: P28999
Variant: N -> I at position 393-393
Variant annotation: in strain: CBS 834
Protein function: Has both inulase and invertase activity.
Reference sequence:
MKFAYSLLLPLAGVSASVINYKRDGDSKAITNTTFSLNRPSVHFTPSHGWMNDPNGLWYDAKEEDWHLYYQYNPAATIWGTPLYWGHAVSKDLTSWTDYGASLGPGSDDAGAFSGSMVIDYNNTSGFFNSSVDPRQRAVAVWTLSKGPSQAQHISYSLDGGYTFEHYTDNAVLDINSSNFRDPKVFWHEGENGEDGRWIMAVAESQVFSVLFYSSPNLKNWTLESNFTHHGWTGTQYECPGLVKVPYDSVVDSSNSSDSKPDSAWVLFVSINPGGPLGGSVTQYFVGDFNGTHFTPIDGQTRFLDMGKDYYALQTFFNTPNEKDVYGIAWASNWQYAQQAPTDPWRSSMSLVRQFTLKDFSTNPNSADVVLNSQPVLNYDALRKNGTTYSITNYTVTSENGKKIKLDNPSGSLEFHLEYVFNGSPDIKSNVFADLSLYFKGNNDDNEYLRLGYETNGGAFFLDRGHTKIPFVKENLFFTHQLAVTNPVSNYTTNVFDVYGVIDKNIIELYFDNGNVVSTNTFFFSTNNVIGEIDIKSPYDKAYTINSFNVTQFNV
UniProt ID: P28999
Variant: T -> N at position 479-479
Variant annotation: in strain: CBS 6556
Protein function: Has both inulase and invertase activity.
Reference sequence:
MKFAYSLLLPLAGVSASVINYKRDGDSKAITNTTFSLNRPSVHFTPSHGWMNDPNGLWYDAKEEDWHLYYQYNPAATIWGTPLYWGHAVSKDLTSWTDYGASLGPGSDDAGAFSGSMVIDYNNTSGFFNSSVDPRQRAVAVWTLSKGPSQAQHISYSLDGGYTFEHYTDNAVLDINSSNFRDPKVFWHEGENGEDGRWIMAVAESQVFSVLFYSSPNLKNWTLESNFTHHGWTGTQYECPGLVKVPYDSVVDSSNSSDSKPDSAWVLFVSINPGGPLGGSVTQYFVGDFNGTHFTPIDGQTRFLDMGKDYYALQTFFNTPNEKDVYGIAWASNWQYAQQAPTDPWRSSMSLVRQFTLKDFSTNPNSADVVLNSQPVLNYDALRKNGTTYSITNYTVTSENGKKIKLDNPSGSLEFHLEYVFNGSPDIKSNVFADLSLYFKGNNDDNEYLRLGYETNGGAFFLDRGHTKIPFVKENLFFTHQLAVTNPVSNYTTNVFDVYGVIDKNIIELYFDNGNVVSTNTFFFSTNNVIGEIDIKSPYDKAYTINSFNVTQFNV
UniProt ID: P29006
Variant: I -> L at position 117-117
Protein function: Bombinin H has antibacterial and hemolytic activity.
Reference sequence:
MNFKYIVAVSILIASAYARSEENDIQSLSQRDVLEEESLREIRGIGGALLSAAKVGLKGLAKGLAEHFANGKRTAEEREVMKRLEAAMRDLDSFEHPEEASEKETRGFNQEEKEKRIIGPVLGLVGSALGGLLKKIG
UniProt ID: P29006
Variant: L -> M at position 124-124
Protein function: Bombinin H has antibacterial and hemolytic activity.
Reference sequence:
MNFKYIVAVSILIASAYARSEENDIQSLSQRDVLEEESLREIRGIGGALLSAAKVGLKGLAKGLAEHFANGKRTAEEREVMKRLEAAMRDLDSFEHPEEASEKETRGFNQEEKEKRIIGPVLGLVGSALGGLLKKIG
UniProt ID: P29017
Variant: N -> T at position 70-70
Variant annotation: in dbSNP:rs3138100
Protein function: Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells.
Reference sequence:
MLFLQFLLLALLLPGGDNADASQEHVSFHVIQIFSFVNQSWARGQGSGWLDELQTHGWDSESGTIIFLHNWSKGNFSNEELSDLELLFRFYLFGLTREIQDHASQDYSKYPFEVQVKAGCELHSGKSPEGFFQVAFNGLDLLSFQNTTWVPSPGCGSLAQSVCHLLNHQYEGVTETVYNLIRSTCPRFLLGLLDAGKMYVHRQVRPEAWLSSRPSLGSGQLLLVCHASGFYPKPVWVTWMRNEQEQLGTKHGDILPNADGTWYLQVILEVASEEPAGLSCRVRHSSLGGQDIILYWGHHFSMNWIALVVIVPLVILIVLVLWFKKHCSYQDIL
UniProt ID: P29017
Variant: F -> S at position 300-300
Variant annotation: in dbSNP:rs3138105
Protein function: Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells.
Reference sequence:
MLFLQFLLLALLLPGGDNADASQEHVSFHVIQIFSFVNQSWARGQGSGWLDELQTHGWDSESGTIIFLHNWSKGNFSNEELSDLELLFRFYLFGLTREIQDHASQDYSKYPFEVQVKAGCELHSGKSPEGFFQVAFNGLDLLSFQNTTWVPSPGCGSLAQSVCHLLNHQYEGVTETVYNLIRSTCPRFLLGLLDAGKMYVHRQVRPEAWLSSRPSLGSGQLLLVCHASGFYPKPVWVTWMRNEQEQLGTKHGDILPNADGTWYLQVILEVASEEPAGLSCRVRHSSLGGQDIILYWGHHFSMNWIALVVIVPLVILIVLVLWFKKHCSYQDIL
UniProt ID: P29029
Variant: L -> P at position 16-16
Variant annotation: in strain: DBY939
Protein function: Chitinase is required for cell separation during growth of S.cerevisiae.
Reference sequence:
MSLLYIILLFTQFLLLPTDAFDRSANTNIAVYWGQNSAGTQESLATYCESSDADIFLLSFLNQFPTLGLNFANACSDTFSDGLLHCTQIAEDIETCQSLGKKVLLSLGGASGSYLFSDDSQAETFAQTLWDTFGEGTGASERPFDSAVVDGFDFDIENNNEVGYSALATKLRTLFAEGTKQYYLSAAPQCPYPDASVGDLLENADIDFAFIQFYNNYCSVSGQFNWDTWLTYAQTVSPNKNIKLFLGLPGSASAAGSGYISDTSLLESTIADIASSSSFGGIALWDASQAFSNELNGEPYVEILKNLLTSASQTATTTVATSKTSAASTSSASTSSASTSQKKTTQSTTSTQSKSKVTLSPTASSAIKTSITQTTKTLTSSTKTKSSLGTTTTESTLNSVAITSMKTTLSSQITSAALVTPQTTTTSIVSSAPIQTAITSTLSPATKSSSVVSLQTATTSTLSPTTTSTSSGSTSSGSTSSDSTARTLAKELNAQYAAGKLNGKSTCTEGEIACSADGKFAVCDHSAWVYMECASGTTCYAYDSGDSVYTQCNFSYLESNYF
UniProt ID: P29029
Variant: R -> S at position 23-23
Variant annotation: in strain: DBY939 and SEY6210
Protein function: Chitinase is required for cell separation during growth of S.cerevisiae.
Reference sequence:
MSLLYIILLFTQFLLLPTDAFDRSANTNIAVYWGQNSAGTQESLATYCESSDADIFLLSFLNQFPTLGLNFANACSDTFSDGLLHCTQIAEDIETCQSLGKKVLLSLGGASGSYLFSDDSQAETFAQTLWDTFGEGTGASERPFDSAVVDGFDFDIENNNEVGYSALATKLRTLFAEGTKQYYLSAAPQCPYPDASVGDLLENADIDFAFIQFYNNYCSVSGQFNWDTWLTYAQTVSPNKNIKLFLGLPGSASAAGSGYISDTSLLESTIADIASSSSFGGIALWDASQAFSNELNGEPYVEILKNLLTSASQTATTTVATSKTSAASTSSASTSSASTSQKKTTQSTTSTQSKSKVTLSPTASSAIKTSITQTTKTLTSSTKTKSSLGTTTTESTLNSVAITSMKTTLSSQITSAALVTPQTTTTSIVSSAPIQTAITSTLSPATKSSSVVSLQTATTSTLSPTTTSTSSGSTSSGSTSSDSTARTLAKELNAQYAAGKLNGKSTCTEGEIACSADGKFAVCDHSAWVYMECASGTTCYAYDSGDSVYTQCNFSYLESNYF
UniProt ID: P29029
Variant: T -> S at position 321-321
Variant annotation: in strain: DBY939
Protein function: Chitinase is required for cell separation during growth of S.cerevisiae.
Reference sequence:
MSLLYIILLFTQFLLLPTDAFDRSANTNIAVYWGQNSAGTQESLATYCESSDADIFLLSFLNQFPTLGLNFANACSDTFSDGLLHCTQIAEDIETCQSLGKKVLLSLGGASGSYLFSDDSQAETFAQTLWDTFGEGTGASERPFDSAVVDGFDFDIENNNEVGYSALATKLRTLFAEGTKQYYLSAAPQCPYPDASVGDLLENADIDFAFIQFYNNYCSVSGQFNWDTWLTYAQTVSPNKNIKLFLGLPGSASAAGSGYISDTSLLESTIADIASSSSFGGIALWDASQAFSNELNGEPYVEILKNLLTSASQTATTTVATSKTSAASTSSASTSSASTSQKKTTQSTTSTQSKSKVTLSPTASSAIKTSITQTTKTLTSSTKTKSSLGTTTTESTLNSVAITSMKTTLSSQITSAALVTPQTTTTSIVSSAPIQTAITSTLSPATKSSSVVSLQTATTSTLSPTTTSTSSGSTSSGSTSSDSTARTLAKELNAQYAAGKLNGKSTCTEGEIACSADGKFAVCDHSAWVYMECASGTTCYAYDSGDSVYTQCNFSYLESNYF
UniProt ID: P29029
Variant: S -> A at position 399-399
Variant annotation: in strain: DBY939
Protein function: Chitinase is required for cell separation during growth of S.cerevisiae.
Reference sequence:
MSLLYIILLFTQFLLLPTDAFDRSANTNIAVYWGQNSAGTQESLATYCESSDADIFLLSFLNQFPTLGLNFANACSDTFSDGLLHCTQIAEDIETCQSLGKKVLLSLGGASGSYLFSDDSQAETFAQTLWDTFGEGTGASERPFDSAVVDGFDFDIENNNEVGYSALATKLRTLFAEGTKQYYLSAAPQCPYPDASVGDLLENADIDFAFIQFYNNYCSVSGQFNWDTWLTYAQTVSPNKNIKLFLGLPGSASAAGSGYISDTSLLESTIADIASSSSFGGIALWDASQAFSNELNGEPYVEILKNLLTSASQTATTTVATSKTSAASTSSASTSSASTSQKKTTQSTTSTQSKSKVTLSPTASSAIKTSITQTTKTLTSSTKTKSSLGTTTTESTLNSVAITSMKTTLSSQITSAALVTPQTTTTSIVSSAPIQTAITSTLSPATKSSSVVSLQTATTSTLSPTTTSTSSGSTSSGSTSSDSTARTLAKELNAQYAAGKLNGKSTCTEGEIACSADGKFAVCDHSAWVYMECASGTTCYAYDSGDSVYTQCNFSYLESNYF
UniProt ID: P29029
Variant: PI -> SL at position 433-434
Variant annotation: in strain: DBY939
Protein function: Chitinase is required for cell separation during growth of S.cerevisiae.
Reference sequence:
MSLLYIILLFTQFLLLPTDAFDRSANTNIAVYWGQNSAGTQESLATYCESSDADIFLLSFLNQFPTLGLNFANACSDTFSDGLLHCTQIAEDIETCQSLGKKVLLSLGGASGSYLFSDDSQAETFAQTLWDTFGEGTGASERPFDSAVVDGFDFDIENNNEVGYSALATKLRTLFAEGTKQYYLSAAPQCPYPDASVGDLLENADIDFAFIQFYNNYCSVSGQFNWDTWLTYAQTVSPNKNIKLFLGLPGSASAAGSGYISDTSLLESTIADIASSSSFGGIALWDASQAFSNELNGEPYVEILKNLLTSASQTATTTVATSKTSAASTSSASTSSASTSQKKTTQSTTSTQSKSKVTLSPTASSAIKTSITQTTKTLTSSTKTKSSLGTTTTESTLNSVAITSMKTTLSSQITSAALVTPQTTTTSIVSSAPIQTAITSTLSPATKSSSVVSLQTATTSTLSPTTTSTSSGSTSSGSTSSDSTARTLAKELNAQYAAGKLNGKSTCTEGEIACSADGKFAVCDHSAWVYMECASGTTCYAYDSGDSVYTQCNFSYLESNYF
UniProt ID: P29029
Variant: T -> K at position 461-461
Variant annotation: in strain: DBY939
Protein function: Chitinase is required for cell separation during growth of S.cerevisiae.
Reference sequence:
MSLLYIILLFTQFLLLPTDAFDRSANTNIAVYWGQNSAGTQESLATYCESSDADIFLLSFLNQFPTLGLNFANACSDTFSDGLLHCTQIAEDIETCQSLGKKVLLSLGGASGSYLFSDDSQAETFAQTLWDTFGEGTGASERPFDSAVVDGFDFDIENNNEVGYSALATKLRTLFAEGTKQYYLSAAPQCPYPDASVGDLLENADIDFAFIQFYNNYCSVSGQFNWDTWLTYAQTVSPNKNIKLFLGLPGSASAAGSGYISDTSLLESTIADIASSSSFGGIALWDASQAFSNELNGEPYVEILKNLLTSASQTATTTVATSKTSAASTSSASTSSASTSQKKTTQSTTSTQSKSKVTLSPTASSAIKTSITQTTKTLTSSTKTKSSLGTTTTESTLNSVAITSMKTTLSSQITSAALVTPQTTTTSIVSSAPIQTAITSTLSPATKSSSVVSLQTATTSTLSPTTTSTSSGSTSSGSTSSDSTARTLAKELNAQYAAGKLNGKSTCTEGEIACSADGKFAVCDHSAWVYMECASGTTCYAYDSGDSVYTQCNFSYLESNYF
UniProt ID: P29037
Variant: Q -> QQQ at position 70-70
Variant annotation: in strain: TW18/TW5
Protein function: General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Binding of TFIID to the TATA box is the initial transcriptional step of the pre-initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II. Component of a BRF2-containing transcription factor complex that regulates transcription mediated by RNA polymerase III. Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1 with the rDNA promoter. SL1 is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA.
Reference sequence:
MDQNNSLPPYAQGLASPQGAMTPGIPIFSPMMPYGTGLTPQPIQNTNSLSILEEQQRQQQQQQQQQQQQQAVATAAASVQQSTSQQPTQGASGQTPQLFHSQTLTTAPLPGTTPLYPSPMTPMTPITPATPASESSGIVPQLQNIVSTVNLGCKLDLKTIALRARNAEYNPKRFAAVIMRIREPRTTALIFSSGKMVCTGAKSEEQSRLAARKYARVVQKLGFPAKFLDFKIQNMVGSCDVKFPIRLEGLVLTHQQFSSYEPELFPGLIYRMIKPRIVLLIFVSGKVVLTGAKVRAEIYEAFENIYPILKGFRKTT
UniProt ID: P29083
Variant: P -> S at position 366-366
Variant annotation: in dbSNP:rs3732401
Protein function: Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.
Reference sequence:
MADPDVLTEVPAALKRLAKYVIRGFYGIEHALALDILIRNSCVKEEDMLELLKFDRKQLRSVLNNLKGDKFIKCRMRVETAADGKTTRHNYYFINYRTLVNVVKYKLDHMRRRIETDERDSTNRASFKCPVCSSTFTDLEANQLFDPMTGTFRCTFCHTEVEEDESAMPKKDARTLLARFNEQIEPIYALLRETEDVNLAYEILEPEPTEIPALKQSKDHAATTAGAASLAGGHHREAWATKGPSYEDLYTQNVVINMDDQEDLHRASLEGKSAKERPIWLRESTVQGAYGSEDMKEGGIDMDAFQEREEGHAGPDDNEEVMRALLIHEKKTSSAMAGSVGAAAPVTAANGSDSESETSESDDDSPPRPAAVAVHKREEDEEEDDEFEEVADDPIVMVAGRPFSYSEVSQRPELVAQMTPEEKEAYIAMGQRMFEDLFE
UniProt ID: P29084
Variant: I -> T at position 133-133
Variant annotation: in dbSNP:rs2229299
Protein function: Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.
Reference sequence:
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNLKALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLMTEALVNNPKIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALGDQILFVNRPDKKKILFFNDKSCQFSVDEEFQKLWRSVTVDSMDEEKIEEYLKRQGISSMQESGPKKVAPIQRRKKPASQKKRRFKTHNEHLAGVLKDYSDITSSK
UniProt ID: P29084
Variant: A -> P at position 150-150
Variant annotation: in TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells; dbSNP:rs875989846
Protein function: Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.
Reference sequence:
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNLKALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLMTEALVNNPKIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALGDQILFVNRPDKKKILFFNDKSCQFSVDEEFQKLWRSVTVDSMDEEKIEEYLKRQGISSMQESGPKKVAPIQRRKKPASQKKRRFKTHNEHLAGVLKDYSDITSSK
UniProt ID: P29084
Variant: K -> R at position 183-183
Variant annotation: in dbSNP:rs2978277
Protein function: Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.
Reference sequence:
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNLKALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLMTEALVNNPKIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALGDQILFVNRPDKKKILFFNDKSCQFSVDEEFQKLWRSVTVDSMDEEKIEEYLKRQGISSMQESGPKKVAPIQRRKKPASQKKRRFKTHNEHLAGVLKDYSDITSSK
UniProt ID: P29084
Variant: D -> Y at position 187-187
Variant annotation: in TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells; dbSNP:rs875989847
Protein function: Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.
Reference sequence:
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNGSFNLKALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLMTEALVNNPKIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQKAVKALGDQILFVNRPDKKKILFFNDKSCQFSVDEEFQKLWRSVTVDSMDEEKIEEYLKRQGISSMQESGPKKVAPIQRRKKPASQKKRRFKTHNEHLAGVLKDYSDITSSK