sujigwak/NVAR huggingface dataset:
UniProt ID: O48080
Variant: W -> G at position 281-281
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MPHQQMLILFGLLPVATNISTWWNFGSMLLACSSMQVLTGFFLAVHYTANINLAFSSIVHITRDVPYGWMMQNLHAIGASMFFICIYIHIARGLYYGSYLNKKTWLSGTTLLIMLMATAFFGYVLPWGQMSFWAATVITNLLTAIPYLGTTMTTWLWGGFAINDPTLTRFFALHFILPFGIISLSSLHIMLLHEDGSSNPLGTNSDIDKIPFHPYHTYKDLLMLSLMVLMLLMTVSFLPDIFNDPENFSKANPLVTPQHIKPEWYFLFAYGILRSIPNKLWGALALAMSITILLTVPFTHTSTIRSMMFRPIMQLMFWTLVATFMVITWAATKPVEPPFTMISQIASTIYFLFLIMNPIAGWIENNILKYN
UniProt ID: O48080
Variant: T -> M at position 291-291
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MPHQQMLILFGLLPVATNISTWWNFGSMLLACSSMQVLTGFFLAVHYTANINLAFSSIVHITRDVPYGWMMQNLHAIGASMFFICIYIHIARGLYYGSYLNKKTWLSGTTLLIMLMATAFFGYVLPWGQMSFWAATVITNLLTAIPYLGTTMTTWLWGGFAINDPTLTRFFALHFILPFGIISLSSLHIMLLHEDGSSNPLGTNSDIDKIPFHPYHTYKDLLMLSLMVLMLLMTVSFLPDIFNDPENFSKANPLVTPQHIKPEWYFLFAYGILRSIPNKLWGALALAMSITILLTVPFTHTSTIRSMMFRPIMQLMFWTLVATFMVITWAATKPVEPPFTMISQIASTIYFLFLIMNPIAGWIENNILKYN
UniProt ID: O48080
Variant: L -> M at position 368-368
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MPHQQMLILFGLLPVATNISTWWNFGSMLLACSSMQVLTGFFLAVHYTANINLAFSSIVHITRDVPYGWMMQNLHAIGASMFFICIYIHIARGLYYGSYLNKKTWLSGTTLLIMLMATAFFGYVLPWGQMSFWAATVITNLLTAIPYLGTTMTTWLWGGFAINDPTLTRFFALHFILPFGIISLSSLHIMLLHEDGSSNPLGTNSDIDKIPFHPYHTYKDLLMLSLMVLMLLMTVSFLPDIFNDPENFSKANPLVTPQHIKPEWYFLFAYGILRSIPNKLWGALALAMSITILLTVPFTHTSTIRSMMFRPIMQLMFWTLVATFMVITWAATKPVEPPFTMISQIASTIYFLFLIMNPIAGWIENNILKYN
UniProt ID: O48094
Variant: F -> L at position 171-171
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MPHHYVLTLFGLLPVATNISTWWNFGSMLLTCLALQVLTGFFLAVHYTANINLAFSSIVHITRDVPYGWMMQNLHAIGASMFFICIYIHIARGLYYGSYLNKETWMSGITLLITLMATAFFGYVLPWGQMSFWAATVITNLLTAVPYLGTSLTTWLWGGFAINDPTLTRFFALHFILPFAIISLSSLHVILLHEEGSSNPLGTNPDIDKIPFHPYHSHKDLLLLTLMMMFLFIIVSFFPDIFNDPDNFSKANPLVTPQHIKPEWYFLFAYGILRSIPNKLGGALALVMSIMILFCTPFTHTAHLRPMTFRPLSQLMFWTLVSTFITITWAATKPVEPPFITISQVTSILYFTFFLSIPILGWVENKIMNAP
UniProt ID: O48094
Variant: L -> S at position 187-187
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MPHHYVLTLFGLLPVATNISTWWNFGSMLLTCLALQVLTGFFLAVHYTANINLAFSSIVHITRDVPYGWMMQNLHAIGASMFFICIYIHIARGLYYGSYLNKETWMSGITLLITLMATAFFGYVLPWGQMSFWAATVITNLLTAVPYLGTSLTTWLWGGFAINDPTLTRFFALHFILPFAIISLSSLHVILLHEEGSSNPLGTNPDIDKIPFHPYHSHKDLLLLTLMMMFLFIIVSFFPDIFNDPDNFSKANPLVTPQHIKPEWYFLFAYGILRSIPNKLGGALALVMSIMILFCTPFTHTAHLRPMTFRPLSQLMFWTLVSTFITITWAATKPVEPPFITISQVTSILYFTFFLSIPILGWVENKIMNAP
UniProt ID: O48094
Variant: G -> E at position 202-202
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MPHHYVLTLFGLLPVATNISTWWNFGSMLLTCLALQVLTGFFLAVHYTANINLAFSSIVHITRDVPYGWMMQNLHAIGASMFFICIYIHIARGLYYGSYLNKETWMSGITLLITLMATAFFGYVLPWGQMSFWAATVITNLLTAVPYLGTSLTTWLWGGFAINDPTLTRFFALHFILPFAIISLSSLHVILLHEEGSSNPLGTNPDIDKIPFHPYHSHKDLLLLTLMMMFLFIIVSFFPDIFNDPDNFSKANPLVTPQHIKPEWYFLFAYGILRSIPNKLGGALALVMSIMILFCTPFTHTAHLRPMTFRPLSQLMFWTLVSTFITITWAATKPVEPPFITISQVTSILYFTFFLSIPILGWVENKIMNAP
UniProt ID: O48094
Variant: C -> S at position 295-295
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MPHHYVLTLFGLLPVATNISTWWNFGSMLLTCLALQVLTGFFLAVHYTANINLAFSSIVHITRDVPYGWMMQNLHAIGASMFFICIYIHIARGLYYGSYLNKETWMSGITLLITLMATAFFGYVLPWGQMSFWAATVITNLLTAVPYLGTSLTTWLWGGFAINDPTLTRFFALHFILPFAIISLSSLHVILLHEEGSSNPLGTNPDIDKIPFHPYHSHKDLLLLTLMMMFLFIIVSFFPDIFNDPDNFSKANPLVTPQHIKPEWYFLFAYGILRSIPNKLGGALALVMSIMILFCTPFTHTAHLRPMTFRPLSQLMFWTLVSTFITITWAATKPVEPPFITISQVTSILYFTFFLSIPILGWVENKIMNAP
UniProt ID: O48096
Variant: L -> F at position 120-120
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MPHHYILTLFGLLPVATNISTWWNFGSMLLTCLVLQVLTGFFLAVHYTANINLAFSSIVHITRDVPYGWMMQNLHAIGASMFFICIYIHIARGLYYGSYLNKETWMSGITLLITLMATALFGYVLPWGQMSFWAATVITNLLTAVPYLGTSLTTWLWGGFAINDPTLTRFFALHFILPFAIISLSSLHIILLHEEGSSNPLGTNPDIDKIPFHPYHSHKDLLLLTLMMMFLFIIVSFFPDIFNDPDNFSKANPLVTPQHIKPEWYFLFAYGILRSIPNKLGGALALVASIMILFTTPFTHTANLRPMTFRPLSQLMFWTLVSTFITITWAATKPVEPPFIAISQVTSMLYFTFFLSIPILGWMENKMMNTP
UniProt ID: O49139
Variant: D -> G at position 148-148
Variant annotation: in strain: cv. Metz-0
Protein function: May be involved in the CpXpG methylation and in gene silencing.
Reference sequence:
MAARNKQKKRAEPESDLCFAGKPMSVVESTIRWPHRYQSKKTKLQAPTKKPANKGGKKEDEEIIKQAKCHFDKALVDGVLINLNDDVYVTGLPGKLKFIAKVIELFEADDGVPYCRFRWYYRPEDTLIERFSHLVQPKRVFLSNDENDNPLTCIWSKVNIAKVPLPKITSRIEQRVIPPCDYYYDMKYEVPYLNFTSADDGSDASSSLSSDSALNCFENLHKDEKFLLDLYSGCGAMSTGFCMGASISGVKLITKWSVDINKFACDSLKLNHPETEVRNEAAEDFLALLKEWKRLCEKFSLVSSTEPVESISELEDEEVEENDDIDEASTGAELEPGEFEVEKFLGIMFGDPQGTGEKTLQLMVRWKGYNSSYDTWEPYSGLGNCKEKLKEYVIDGFKSHLLPLPGTVYTVCGGPPCQGISGYNRYRNNEAPLEDQKNQQLLVFLDIIDFLKPNYVLMENVVDLLRFSKGFLARHAVASFVAMNYQTRLGMMAAGSYGLPQLRNRVFLWAAQPSEKLPPYPLPTHEVAKKFNTPKEFKDLQVGRIQMEFLKLDNALTLADAISDLPPVTNYVANDVMDYNDAAPKTEFENFISLKRSETLLPAFGGDPTRRLFDHQPLVLGDDDLERVSYIPKQKGANYRDMPGVLVHNNKAEINPRFRAKLKSGKNVVPAYAISFIKGKSKKPFGRLWGDEIVNTVVTRAEPHNQCVIHPMQNRVLSVRENARLQGFPDCYKLCGTIKEKYIQVGNAVAVPVGVALGYAFGMASQGLTDDEPVIKLPFKYPECMQAKDQI
UniProt ID: O49139
Variant: T -> I at position 196-196
Variant annotation: in strain: cv. Kl-0
Protein function: May be involved in the CpXpG methylation and in gene silencing.
Reference sequence:
MAARNKQKKRAEPESDLCFAGKPMSVVESTIRWPHRYQSKKTKLQAPTKKPANKGGKKEDEEIIKQAKCHFDKALVDGVLINLNDDVYVTGLPGKLKFIAKVIELFEADDGVPYCRFRWYYRPEDTLIERFSHLVQPKRVFLSNDENDNPLTCIWSKVNIAKVPLPKITSRIEQRVIPPCDYYYDMKYEVPYLNFTSADDGSDASSSLSSDSALNCFENLHKDEKFLLDLYSGCGAMSTGFCMGASISGVKLITKWSVDINKFACDSLKLNHPETEVRNEAAEDFLALLKEWKRLCEKFSLVSSTEPVESISELEDEEVEENDDIDEASTGAELEPGEFEVEKFLGIMFGDPQGTGEKTLQLMVRWKGYNSSYDTWEPYSGLGNCKEKLKEYVIDGFKSHLLPLPGTVYTVCGGPPCQGISGYNRYRNNEAPLEDQKNQQLLVFLDIIDFLKPNYVLMENVVDLLRFSKGFLARHAVASFVAMNYQTRLGMMAAGSYGLPQLRNRVFLWAAQPSEKLPPYPLPTHEVAKKFNTPKEFKDLQVGRIQMEFLKLDNALTLADAISDLPPVTNYVANDVMDYNDAAPKTEFENFISLKRSETLLPAFGGDPTRRLFDHQPLVLGDDDLERVSYIPKQKGANYRDMPGVLVHNNKAEINPRFRAKLKSGKNVVPAYAISFIKGKSKKPFGRLWGDEIVNTVVTRAEPHNQCVIHPMQNRVLSVRENARLQGFPDCYKLCGTIKEKYIQVGNAVAVPVGVALGYAFGMASQGLTDDEPVIKLPFKYPECMQAKDQI
UniProt ID: O49139
Variant: A -> T at position 198-198
Variant annotation: in strain: cv. No-0
Protein function: May be involved in the CpXpG methylation and in gene silencing.
Reference sequence:
MAARNKQKKRAEPESDLCFAGKPMSVVESTIRWPHRYQSKKTKLQAPTKKPANKGGKKEDEEIIKQAKCHFDKALVDGVLINLNDDVYVTGLPGKLKFIAKVIELFEADDGVPYCRFRWYYRPEDTLIERFSHLVQPKRVFLSNDENDNPLTCIWSKVNIAKVPLPKITSRIEQRVIPPCDYYYDMKYEVPYLNFTSADDGSDASSSLSSDSALNCFENLHKDEKFLLDLYSGCGAMSTGFCMGASISGVKLITKWSVDINKFACDSLKLNHPETEVRNEAAEDFLALLKEWKRLCEKFSLVSSTEPVESISELEDEEVEENDDIDEASTGAELEPGEFEVEKFLGIMFGDPQGTGEKTLQLMVRWKGYNSSYDTWEPYSGLGNCKEKLKEYVIDGFKSHLLPLPGTVYTVCGGPPCQGISGYNRYRNNEAPLEDQKNQQLLVFLDIIDFLKPNYVLMENVVDLLRFSKGFLARHAVASFVAMNYQTRLGMMAAGSYGLPQLRNRVFLWAAQPSEKLPPYPLPTHEVAKKFNTPKEFKDLQVGRIQMEFLKLDNALTLADAISDLPPVTNYVANDVMDYNDAAPKTEFENFISLKRSETLLPAFGGDPTRRLFDHQPLVLGDDDLERVSYIPKQKGANYRDMPGVLVHNNKAEINPRFRAKLKSGKNVVPAYAISFIKGKSKKPFGRLWGDEIVNTVVTRAEPHNQCVIHPMQNRVLSVRENARLQGFPDCYKLCGTIKEKYIQVGNAVAVPVGVALGYAFGMASQGLTDDEPVIKLPFKYPECMQAKDQI
UniProt ID: O49139
Variant: D -> V at position 560-560
Variant annotation: in strain: cv. Landsberg erecta, cv. No-0 and cv. RLD
Protein function: May be involved in the CpXpG methylation and in gene silencing.
Reference sequence:
MAARNKQKKRAEPESDLCFAGKPMSVVESTIRWPHRYQSKKTKLQAPTKKPANKGGKKEDEEIIKQAKCHFDKALVDGVLINLNDDVYVTGLPGKLKFIAKVIELFEADDGVPYCRFRWYYRPEDTLIERFSHLVQPKRVFLSNDENDNPLTCIWSKVNIAKVPLPKITSRIEQRVIPPCDYYYDMKYEVPYLNFTSADDGSDASSSLSSDSALNCFENLHKDEKFLLDLYSGCGAMSTGFCMGASISGVKLITKWSVDINKFACDSLKLNHPETEVRNEAAEDFLALLKEWKRLCEKFSLVSSTEPVESISELEDEEVEENDDIDEASTGAELEPGEFEVEKFLGIMFGDPQGTGEKTLQLMVRWKGYNSSYDTWEPYSGLGNCKEKLKEYVIDGFKSHLLPLPGTVYTVCGGPPCQGISGYNRYRNNEAPLEDQKNQQLLVFLDIIDFLKPNYVLMENVVDLLRFSKGFLARHAVASFVAMNYQTRLGMMAAGSYGLPQLRNRVFLWAAQPSEKLPPYPLPTHEVAKKFNTPKEFKDLQVGRIQMEFLKLDNALTLADAISDLPPVTNYVANDVMDYNDAAPKTEFENFISLKRSETLLPAFGGDPTRRLFDHQPLVLGDDDLERVSYIPKQKGANYRDMPGVLVHNNKAEINPRFRAKLKSGKNVVPAYAISFIKGKSKKPFGRLWGDEIVNTVVTRAEPHNQCVIHPMQNRVLSVRENARLQGFPDCYKLCGTIKEKYIQVGNAVAVPVGVALGYAFGMASQGLTDDEPVIKLPFKYPECMQAKDQI
UniProt ID: O49139
Variant: F -> C at position 604-604
Variant annotation: in strain: cv. Nd-1, Nd-0 and cv. Kl-0
Protein function: May be involved in the CpXpG methylation and in gene silencing.
Reference sequence:
MAARNKQKKRAEPESDLCFAGKPMSVVESTIRWPHRYQSKKTKLQAPTKKPANKGGKKEDEEIIKQAKCHFDKALVDGVLINLNDDVYVTGLPGKLKFIAKVIELFEADDGVPYCRFRWYYRPEDTLIERFSHLVQPKRVFLSNDENDNPLTCIWSKVNIAKVPLPKITSRIEQRVIPPCDYYYDMKYEVPYLNFTSADDGSDASSSLSSDSALNCFENLHKDEKFLLDLYSGCGAMSTGFCMGASISGVKLITKWSVDINKFACDSLKLNHPETEVRNEAAEDFLALLKEWKRLCEKFSLVSSTEPVESISELEDEEVEENDDIDEASTGAELEPGEFEVEKFLGIMFGDPQGTGEKTLQLMVRWKGYNSSYDTWEPYSGLGNCKEKLKEYVIDGFKSHLLPLPGTVYTVCGGPPCQGISGYNRYRNNEAPLEDQKNQQLLVFLDIIDFLKPNYVLMENVVDLLRFSKGFLARHAVASFVAMNYQTRLGMMAAGSYGLPQLRNRVFLWAAQPSEKLPPYPLPTHEVAKKFNTPKEFKDLQVGRIQMEFLKLDNALTLADAISDLPPVTNYVANDVMDYNDAAPKTEFENFISLKRSETLLPAFGGDPTRRLFDHQPLVLGDDDLERVSYIPKQKGANYRDMPGVLVHNNKAEINPRFRAKLKSGKNVVPAYAISFIKGKSKKPFGRLWGDEIVNTVVTRAEPHNQCVIHPMQNRVLSVRENARLQGFPDCYKLCGTIKEKYIQVGNAVAVPVGVALGYAFGMASQGLTDDEPVIKLPFKYPECMQAKDQI
UniProt ID: O52262
Variant: RPAPVAA -> LAGAGRR at position 141-147
Variant annotation: in MK1
Protein function: Involved in chemotaxis. Part of a chemotaxis signal transduction system that modulates chemotaxis in response to various stimuli. Catalyzes the demethylation of specific methylglutamate residues introduced into the chemoreceptors (methyl-accepting chemotaxis proteins or MCP) by CheR. Also mediates the irreversible deamidation of specific glutamine residues to glutamic acid.
Reference sequence:
MAVKVLVVDDSGFFRRRVSEILSADPTIQVVGTATNGKEAIDQALALKPDVITMDYEMPMMDGITAVRHIMQRCPTPVLMFSSLTHEGARVTLDALDAGAVDYLPKNFEDISRNPDKVKQMLCEKVHTISRSNRRLGSYARPAPVAAPVPASSPAPASSFASPAPARPAATARAAAPAASHSPAPKRKPYKLVAIGTSTGGPVALQRVLTQLPANFPAPIVLIQHMPAAFTKAFAERLDKLCRINVKEAEDGDMLRPGLALLAPGGKQMMIDGRGTVKILPGDERLNYKPCVDITFGSAAKSYGDKVLSVVLTGMGADGREGARLLKQGGSTVWAQDEASCVIYGMPMAIVKANLADAVYSLDDIGKHLVEACV
UniProt ID: O52262
Variant: VA -> LR at position 193-194
Variant annotation: in MK1
Protein function: Involved in chemotaxis. Part of a chemotaxis signal transduction system that modulates chemotaxis in response to various stimuli. Catalyzes the demethylation of specific methylglutamate residues introduced into the chemoreceptors (methyl-accepting chemotaxis proteins or MCP) by CheR. Also mediates the irreversible deamidation of specific glutamine residues to glutamic acid.
Reference sequence:
MAVKVLVVDDSGFFRRRVSEILSADPTIQVVGTATNGKEAIDQALALKPDVITMDYEMPMMDGITAVRHIMQRCPTPVLMFSSLTHEGARVTLDALDAGAVDYLPKNFEDISRNPDKVKQMLCEKVHTISRSNRRLGSYARPAPVAAPVPASSPAPASSFASPAPARPAATARAAAPAASHSPAPKRKPYKLVAIGTSTGGPVALQRVLTQLPANFPAPIVLIQHMPAAFTKAFAERLDKLCRINVKEAEDGDMLRPGLALLAPGGKQMMIDGRGTVKILPGDERLNYKPCVDITFGSAAKSYGDKVLSVVLTGMGADGREGARLLKQGGSTVWAQDEASCVIYGMPMAIVKANLADAVYSLDDIGKHLVEACV
UniProt ID: O54707
Variant: K -> E at position 83-83
Protein function: KLRD1-KLRC2 acts as an immune activating receptor. On cytotoxic lymphocyte subsets recognizes MHC-E loaded with signal sequence-derived peptides from non-classical MHC class Ib MHC-G molecules, likely playing a role in the generation and effector functions of adaptive NK cells and in maternal-fetal tolerance during pregnancy. Regulates the effector functions of terminally differentiated cytotoxic lymphocyte subsets, and in particular may play a role in adaptive NK cell response to viral infection. Upon MHC-E-peptide binding, transmits intracellular signals via the adapter protein TYROBP/DAP12, triggering the phosphorylation of proximal signaling molecules and cell activation.
Reference sequence:
MAVSRITRWRLMSVIFGIKCLFLMVTLGVLLINSFTIQNIQSTPSPTTTVEFQEVSECCVCLDKWVGHQCNCYFISKEEKSWKRSRDFCASQNSSLLQPQSRNELSFMNFSQTFFWIGMHYSEKRNAWLWEDGTVPSKDLFPEFSVIRPEHCIVYSPSKSVSAESCENKNRYICKKLPI
UniProt ID: O54905
Variant: N -> S at position 44-44
Variant annotation: in strain: HMI/Msf
Protein function: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins.
Reference sequence:
MLQWRRRHCCFAKMTWSPKRSLLRTPLTGVLSLVFLFAMFLFFNHHDWLPGRPGFKENPVTYTFRGFRSTKSETNHSSLRTIWKEVAPQTLRPHTASNSSNTELSPQGVTGLQNTLSANGSIYNEKGTGHPNSYHFKYIINEPEKCQEKSPFLILLIAAEPGQIEARRAIRQTWGNETLAPGIQIIRVFLLGISIKLNGYLQHAIQEESRQYHDIIQQEYLDTYYNLTIKTLMGMNWVATYCPHTPYVMKTDSDMFVNTEYLIHKLLKPDLPPRHNYFTGYLMRGYAPNRNKDSKWYMPPDLYPSERYPVFCSGTGYVFSGDLAEKIFKVSLGIRRLHLEDVYVGICLAKLRVDPVPPPNEFVFNHWRVSYSSCKYSHLITSHQFQPSELIKYWNHLQQNKHNACANAAKEKAGRYRHRKLH
UniProt ID: O54905
Variant: V -> A at position 86-86
Variant annotation: in strain: BLG2/Msf, MSM/Msf, SWN/Msf and NJL/Msf
Protein function: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins.
Reference sequence:
MLQWRRRHCCFAKMTWSPKRSLLRTPLTGVLSLVFLFAMFLFFNHHDWLPGRPGFKENPVTYTFRGFRSTKSETNHSSLRTIWKEVAPQTLRPHTASNSSNTELSPQGVTGLQNTLSANGSIYNEKGTGHPNSYHFKYIINEPEKCQEKSPFLILLIAAEPGQIEARRAIRQTWGNETLAPGIQIIRVFLLGISIKLNGYLQHAIQEESRQYHDIIQQEYLDTYYNLTIKTLMGMNWVATYCPHTPYVMKTDSDMFVNTEYLIHKLLKPDLPPRHNYFTGYLMRGYAPNRNKDSKWYMPPDLYPSERYPVFCSGTGYVFSGDLAEKIFKVSLGIRRLHLEDVYVGICLAKLRVDPVPPPNEFVFNHWRVSYSSCKYSHLITSHQFQPSELIKYWNHLQQNKHNACANAAKEKAGRYRHRKLH
UniProt ID: O54905
Variant: P -> S at position 88-88
Variant annotation: in strain: BLG2/Msf and NJL/Msf
Protein function: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins.
Reference sequence:
MLQWRRRHCCFAKMTWSPKRSLLRTPLTGVLSLVFLFAMFLFFNHHDWLPGRPGFKENPVTYTFRGFRSTKSETNHSSLRTIWKEVAPQTLRPHTASNSSNTELSPQGVTGLQNTLSANGSIYNEKGTGHPNSYHFKYIINEPEKCQEKSPFLILLIAAEPGQIEARRAIRQTWGNETLAPGIQIIRVFLLGISIKLNGYLQHAIQEESRQYHDIIQQEYLDTYYNLTIKTLMGMNWVATYCPHTPYVMKTDSDMFVNTEYLIHKLLKPDLPPRHNYFTGYLMRGYAPNRNKDSKWYMPPDLYPSERYPVFCSGTGYVFSGDLAEKIFKVSLGIRRLHLEDVYVGICLAKLRVDPVPPPNEFVFNHWRVSYSSCKYSHLITSHQFQPSELIKYWNHLQQNKHNACANAAKEKAGRYRHRKLH
UniProt ID: O54905
Variant: S -> T at position 100-100
Variant annotation: in strain: CAST/Ei and HMI/Msf
Protein function: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins.
Reference sequence:
MLQWRRRHCCFAKMTWSPKRSLLRTPLTGVLSLVFLFAMFLFFNHHDWLPGRPGFKENPVTYTFRGFRSTKSETNHSSLRTIWKEVAPQTLRPHTASNSSNTELSPQGVTGLQNTLSANGSIYNEKGTGHPNSYHFKYIINEPEKCQEKSPFLILLIAAEPGQIEARRAIRQTWGNETLAPGIQIIRVFLLGISIKLNGYLQHAIQEESRQYHDIIQQEYLDTYYNLTIKTLMGMNWVATYCPHTPYVMKTDSDMFVNTEYLIHKLLKPDLPPRHNYFTGYLMRGYAPNRNKDSKWYMPPDLYPSERYPVFCSGTGYVFSGDLAEKIFKVSLGIRRLHLEDVYVGICLAKLRVDPVPPPNEFVFNHWRVSYSSCKYSHLITSHQFQPSELIKYWNHLQQNKHNACANAAKEKAGRYRHRKLH
UniProt ID: O54905
Variant: N -> D at position 124-124
Variant annotation: in strain: BLG2/Msf, NJL/Msf, MSM/Msf and SWN/Msf
Protein function: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins.
Reference sequence:
MLQWRRRHCCFAKMTWSPKRSLLRTPLTGVLSLVFLFAMFLFFNHHDWLPGRPGFKENPVTYTFRGFRSTKSETNHSSLRTIWKEVAPQTLRPHTASNSSNTELSPQGVTGLQNTLSANGSIYNEKGTGHPNSYHFKYIINEPEKCQEKSPFLILLIAAEPGQIEARRAIRQTWGNETLAPGIQIIRVFLLGISIKLNGYLQHAIQEESRQYHDIIQQEYLDTYYNLTIKTLMGMNWVATYCPHTPYVMKTDSDMFVNTEYLIHKLLKPDLPPRHNYFTGYLMRGYAPNRNKDSKWYMPPDLYPSERYPVFCSGTGYVFSGDLAEKIFKVSLGIRRLHLEDVYVGICLAKLRVDPVPPPNEFVFNHWRVSYSSCKYSHLITSHQFQPSELIKYWNHLQQNKHNACANAAKEKAGRYRHRKLH
UniProt ID: O55060
Variant: I -> V at position 69-69
Variant annotation: in strain: C57BL/6J
Protein function: Catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine (also called mercaptopurine, 6-MP or its brand name Purinethol) using S-adenosyl-L-methionine as the methyl donor . TPMT activity modulates the cytotoxic effects of thiopurine prodrugs. A natural substrate for this enzyme has yet to be identified.
Reference sequence:
MSLDMKEHPDAEVQKNQVLTLEDWKEKWVTRHISFHQEQGHQLLKKHLDTFLKGQSGLRVFFPLCGKAIEMKWFADRGHTVVGVEISEIGIREFFAEQNLSYTEEPLAEIAGAKVFKSSSGSISLYCCSIFDLPRANIGKFDRIWDRGALVAINPGDHDRYADIILSLLRKEFQYLVAVLSYDPTKHAGPPFYVPSAELKRLFGTKCSMQCLEEVDALEERHKAWGLDYLFEKLYLLTEK
UniProt ID: O55101
Variant: T -> I at position 215-215
Protein function: May play a role in regulated exocytosis. In neuronal cells, modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in the formation and/or the maturation of this vesicles. May also play a role in GLUT4 storage and transport to the plasma membrane.
Reference sequence:
MESGAYGAANAGGSFDLRRFLSQPQVVTRLVSMVLALIVFSCIFGEGYTNIHTSDQLYCVFNQNEDACRYGSAIGVLAFLASAFFLVVDAFFSQISNATDRKYLVIGDLLFSALWTFLWFVGFCFLTNQWAATKPQDVRVGADSARAAITFSFFSIFSWGVLASLAYQRYKAGVDAFIQNYVDPTPDPNTAYASYPSASVENYQQPPFTQNVETTEGYQPPPVY
UniProt ID: O57415
Variant: L -> S at position 837-837
Variant annotation: in strain: Leghorn
Protein function: Transcription factor that binds specifically to the RAS-responsive elements (RRE) of gene promoters.
Reference sequence:
MMSAVMNVGKIAENGGTSQTVKSPSKSPAPNRIGRRNQETKEEKSSYTCPLCEKICTTQHQLTMHIRQHNTDTGGTDHSCSICGKSLSSASSLDRHMLVHSGERPYKCSVCGQSFTTNGNMHRHMKIHEKDPNSTASTTPPSPLKAKRLSSKRKFSQDAEMDREERTPAKKVVEDGQYGEGDRKEDDAYHCPVCFKDFFCKYALESHMETHPDNSLRCDICCITFRTHRGLLRHNAVIHKQLPRDPTGKPFIQNNPSIPAGFHDLGFTDFSCRKFPRISQVWCETNLRRCISEFHRFICETCNKAFPMLLALKLHTETHVMDQGRDKHKLQSTSLPSENPDQKAFMASLGLQYTKDIKPVKQEDDTQDEVQEMRLRALKSNLPQEPGSTGLLSLSPLEAATMGGPFSVLPPTKENIKLLSLQPFQKGFIIQPDSSIVVKPISNESAIELADIQQILKMASSAPPQISLPPLSKAPSVPVQSIFKHMPPLKPKPLVTPRTVVATSTPPPLISAQQASPGCISPSLPPPPLRLIKNSVETSSNSHLSQPGAKSSPSSQLLLQPKVEPLTQHEMKTQLEQDSIIEALLPLNMEAKIKQEVTEGDLKAIIAGAANKKAPTMRKVLYPCRFCDQVFAFSGVLRAHIRSHLGISPYQCNICDYIAADKAALIRHLRTHSGERPYICKICHYPGTVKANCERHLRKKHLKVTRKDIEKNIEYVTSNAAEMVDAFCSPDTVCKLCGEDLKHYRALRIHMRTHSGCQKKKPFECKECGTAFSAKRNCIHHILKQHLHVQEREIENYILVVDCSAQESHTDAPLLEDSTYMDCKPITPFLEPQNGFLLGTSSHVPIKLEPMGNFPMDFDEPLDFSQKSKNLSAVQVKQENLLVSSPLSFYDCSMEPIDLSIPKVLKRDNDIPGEARNQELASSVITDNAYNWQQCPLGFGANGNSEKNRAVGHPQPLKGSLHLTVPIISPALLGNSALLRPLRPKPPPQPLLPKPPVTKELPPLASIAQIISSVSSAPALLKTEAADASPKAASSSTGCDKSGNAKAKMTIVTAIQRDSNLPSDLTQACDPEPSPIADTGLTKKRGRKKGTKNKPKLSSGVDLESSGEFASIEKMLATTDTNKFSPFLQSTDNFKEESGQNGTSEDEKETPEDKLLRGKRNTYSDCPQKITCPYCPRVFSWASSLQRHMLTHTDSQADTEAPATGGEVLDLTSCEKEQPEEVSELPGSECSPQEEQKADSPPAEEDAEEKADEYEEGPEEDSVSNKSLDLNFASKLMDFKLAESDQSAGSSSQTERKHACDVCGKTFKFAGALSRHKKAHIREDRKDERSSEDESKSIQDDAGAPSMQDSGLEQEESPMDLKVVESPLDCEATGKENEESESISEGEGTERKSTEKSSDDKIPKTDEAKSTAKADKRKKVCTVCNKRFWSLQDLTRHMRSHTGERPYKCQTCERTFTLKHSLVRHQRIHQKVKNTRNHGKESDKEETQSRCGEDSENESSHSGTNPISENECDFAGVVGSHPSGTRSRKESLVGAAKDVPCEEERPSGQGATADLVEPAKSTQKQPAKDQEPRGSSELERPSGFIQDLLEMHNKKSPMNHILASADSTPQLLGVE
UniProt ID: O57415
Variant: W -> C at position 932-932
Variant annotation: in strain: Leghorn
Protein function: Transcription factor that binds specifically to the RAS-responsive elements (RRE) of gene promoters.
Reference sequence:
MMSAVMNVGKIAENGGTSQTVKSPSKSPAPNRIGRRNQETKEEKSSYTCPLCEKICTTQHQLTMHIRQHNTDTGGTDHSCSICGKSLSSASSLDRHMLVHSGERPYKCSVCGQSFTTNGNMHRHMKIHEKDPNSTASTTPPSPLKAKRLSSKRKFSQDAEMDREERTPAKKVVEDGQYGEGDRKEDDAYHCPVCFKDFFCKYALESHMETHPDNSLRCDICCITFRTHRGLLRHNAVIHKQLPRDPTGKPFIQNNPSIPAGFHDLGFTDFSCRKFPRISQVWCETNLRRCISEFHRFICETCNKAFPMLLALKLHTETHVMDQGRDKHKLQSTSLPSENPDQKAFMASLGLQYTKDIKPVKQEDDTQDEVQEMRLRALKSNLPQEPGSTGLLSLSPLEAATMGGPFSVLPPTKENIKLLSLQPFQKGFIIQPDSSIVVKPISNESAIELADIQQILKMASSAPPQISLPPLSKAPSVPVQSIFKHMPPLKPKPLVTPRTVVATSTPPPLISAQQASPGCISPSLPPPPLRLIKNSVETSSNSHLSQPGAKSSPSSQLLLQPKVEPLTQHEMKTQLEQDSIIEALLPLNMEAKIKQEVTEGDLKAIIAGAANKKAPTMRKVLYPCRFCDQVFAFSGVLRAHIRSHLGISPYQCNICDYIAADKAALIRHLRTHSGERPYICKICHYPGTVKANCERHLRKKHLKVTRKDIEKNIEYVTSNAAEMVDAFCSPDTVCKLCGEDLKHYRALRIHMRTHSGCQKKKPFECKECGTAFSAKRNCIHHILKQHLHVQEREIENYILVVDCSAQESHTDAPLLEDSTYMDCKPITPFLEPQNGFLLGTSSHVPIKLEPMGNFPMDFDEPLDFSQKSKNLSAVQVKQENLLVSSPLSFYDCSMEPIDLSIPKVLKRDNDIPGEARNQELASSVITDNAYNWQQCPLGFGANGNSEKNRAVGHPQPLKGSLHLTVPIISPALLGNSALLRPLRPKPPPQPLLPKPPVTKELPPLASIAQIISSVSSAPALLKTEAADASPKAASSSTGCDKSGNAKAKMTIVTAIQRDSNLPSDLTQACDPEPSPIADTGLTKKRGRKKGTKNKPKLSSGVDLESSGEFASIEKMLATTDTNKFSPFLQSTDNFKEESGQNGTSEDEKETPEDKLLRGKRNTYSDCPQKITCPYCPRVFSWASSLQRHMLTHTDSQADTEAPATGGEVLDLTSCEKEQPEEVSELPGSECSPQEEQKADSPPAEEDAEEKADEYEEGPEEDSVSNKSLDLNFASKLMDFKLAESDQSAGSSSQTERKHACDVCGKTFKFAGALSRHKKAHIREDRKDERSSEDESKSIQDDAGAPSMQDSGLEQEESPMDLKVVESPLDCEATGKENEESESISEGEGTERKSTEKSSDDKIPKTDEAKSTAKADKRKKVCTVCNKRFWSLQDLTRHMRSHTGERPYKCQTCERTFTLKHSLVRHQRIHQKVKNTRNHGKESDKEETQSRCGEDSENESSHSGTNPISENECDFAGVVGSHPSGTRSRKESLVGAAKDVPCEEERPSGQGATADLVEPAKSTQKQPAKDQEPRGSSELERPSGFIQDLLEMHNKKSPMNHILASADSTPQLLGVE