sujigwak/NVAR huggingface dataset:
UniProt ID: Q9TDQ7
Variant: F -> L at position 303-303
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:
MTNIRKTHPLMKIVNNAFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWIIRYMHANGASMFFICLFIHVGRGLYYGSYTFLETWNIGVILLFTVMATAFVGYVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFILPFIIAALAMVHLLFLHETGSNNPTGIPSDVDKIPFHPYYTIKDILGALLLILFLMLLVLFVPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALISSILILIFMPLLHTSKQRSMIFRPLSQCLFWILVADLLTLTWIGGQPVEHPFIIIGQLASILYFLIILVLMPITSTIENNLLKW
UniProt ID: Q9TDQ7
Variant: T -> I at position 369-369
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:
MTNIRKTHPLMKIVNNAFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWIIRYMHANGASMFFICLFIHVGRGLYYGSYTFLETWNIGVILLFTVMATAFVGYVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFILPFIIAALAMVHLLFLHETGSNNPTGIPSDVDKIPFHPYYTIKDILGALLLILFLMLLVLFVPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALISSILILIFMPLLHTSKQRSMIFRPLSQCLFWILVADLLTLTWIGGQPVEHPFIIIGQLASILYFLIILVLMPITSTIENNLLKW
UniProt ID: Q9TF12
Variant: L -> F at position 239-239
Variant annotation: in strain: Isolate S98
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:
MTNIRKTHPLIKIINYSFIDLPTPSNISTWWNFGSLLGLCLTIQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFIHVGRGSYYGSYSYFETWNIGVILLFMVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFIITALVTVHLLFLHETGSNNPSGLISDSDKIPFHPYYTIKDILGAFLLIMVLMTLVLFSPDLLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVFSILILMLFPLLHLAKQRSMMFRPLSQCMFWILVADLLTLTWIGGQPVEYPFTIIGQLASIMYFTIILLVLPTVNLIENKLLKW
UniProt ID: Q9TF12
Variant: M -> T at position 324-324
Variant annotation: in strain: Isolate S98
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:
MTNIRKTHPLIKIINYSFIDLPTPSNISTWWNFGSLLGLCLTIQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFIHVGRGSYYGSYSYFETWNIGVILLFMVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFIITALVTVHLLFLHETGSNNPSGLISDSDKIPFHPYYTIKDILGAFLLIMVLMTLVLFSPDLLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVFSILILMLFPLLHLAKQRSMMFRPLSQCMFWILVADLLTLTWIGGQPVEYPFTIIGQLASIMYFTIILLVLPTVNLIENKLLKW
UniProt ID: Q9TF46
Variant: N -> I at position 212-212
Variant annotation: in strain: Isolate S59
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:
MTNTRKTHPLIKIINHSFIDLPAPSNISAWWNFGSLLGLCLIIQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGLYYGSYTYFETWNIGVILLFTVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFVIAALVMVHLLFLHETGSNNPSGLNSDSDKIPFHPYYTIKDILGVLLLVLTLMILVLFSPDLLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALIFSILILMLFPLLHLSKQRSMMFRPLSQCVFWILVADLLTLTWIGGQPVEHPFIIIGQLASILYFAIILLILPTVSMIENKLLKW
UniProt ID: Q9TF46
Variant: D -> E at position 252-252
Variant annotation: in strain: Isolate S59
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:
MTNTRKTHPLIKIINHSFIDLPAPSNISAWWNFGSLLGLCLIIQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGLYYGSYTYFETWNIGVILLFTVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFVIAALVMVHLLFLHETGSNNPSGLNSDSDKIPFHPYYTIKDILGVLLLVLTLMILVLFSPDLLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALIFSILILMLFPLLHLSKQRSMMFRPLSQCVFWILVADLLTLTWIGGQPVEHPFIIIGQLASILYFAIILLILPTVSMIENKLLKW
UniProt ID: Q9TF46
Variant: L -> F at position 333-333
Variant annotation: in strain: Isolate S59
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:
MTNTRKTHPLIKIINHSFIDLPAPSNISAWWNFGSLLGLCLIIQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGLYYGSYTYFETWNIGVILLFTVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFVIAALVMVHLLFLHETGSNNPSGLNSDSDKIPFHPYYTIKDILGVLLLVLTLMILVLFSPDLLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALIFSILILMLFPLLHLSKQRSMMFRPLSQCVFWILVADLLTLTWIGGQPVEHPFIIIGQLASILYFAIILLILPTVSMIENKLLKW
UniProt ID: Q9TF47
Variant: L -> M at position 306-306
Variant annotation: in strain: Isolate S60
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:
MTNTRKTHPLIKIINHSFIDLPAPSNISAWWNFGSLLGLCLAIQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGLYYGSYTYFETWNIGVILLFVVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFIIAALVMVHLLFLHETGSNNPSGLISNSDKIPFHPYYTIKDILGVFLLILVLMTLVLFSPDLLGDPDNYMPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVFSILILMLFPLLHLSKQRSMMFRPLSQCMFWILVADLFTLTWIGGQPVEHPFIIIGQLASILYFIIILLILPAVSLIENKLLKW
UniProt ID: Q9TF47
Variant: I -> T at position 360-360
Variant annotation: in strain: Isolate S60
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:
MTNTRKTHPLIKIINHSFIDLPAPSNISAWWNFGSLLGLCLAIQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGLYYGSYTYFETWNIGVILLFVVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFIIAALVMVHLLFLHETGSNNPSGLISNSDKIPFHPYYTIKDILGVFLLILVLMTLVLFSPDLLGDPDNYMPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVFSILILMLFPLLHLSKQRSMMFRPLSQCMFWILVADLFTLTWIGGQPVEHPFIIIGQLASILYFIIILLILPAVSLIENKLLKW
UniProt ID: Q9TF50
Variant: V -> M at position 98-98
Variant annotation: in strain: Isolate S58
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:
MTNTRKTHPLIKIINHSFVDLPTPSNISAWWNFGSLLGLCLVIQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGLYYGSYIYFETWNIGIILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFIITALVVIHLLFLHETGSNNPSGLISNSDKIPFHPYYTIKDILGVLLLILTLMTLVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALIFSILILMIFPLLHLSKQRSMMFRPLSQCVFWILVADLFTLTWIGGQPVEHPFIIIGQLASILYFIIILLILPAVSMIENKLLKW
UniProt ID: Q9TF50
Variant: I -> T at position 303-303
Variant annotation: in strain: Isolate S58
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:
MTNTRKTHPLIKIINHSFVDLPTPSNISAWWNFGSLLGLCLVIQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGLYYGSYIYFETWNIGIILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFIITALVVIHLLFLHETGSNNPSGLISNSDKIPFHPYYTIKDILGVLLLILTLMTLVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALIFSILILMIFPLLHLSKQRSMMFRPLSQCVFWILVADLFTLTWIGGQPVEHPFIIIGQLASILYFIIILLILPAVSMIENKLLKW
UniProt ID: Q9TF51
Variant: T -> S at position 17-17
Variant annotation: in strain: Isolate S11
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:
MTNIRKTHPLIKIVNHTFIDLPAPSNISAWWNFGSLLGLCLAIQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGLYYGSYTYFETWNIGVILLFVVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFVLPFIIAALVMVHLLFLHETGSNNPSGLISDSDKIPFHPYYTIKDILGVLLLILALMTLVLFSPDLLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVFSILILMLFPLLHLSKQRSMMFRPLSQCMFWILVADLFTLTWIGGQPVEYPFITIGQLASVLYFTIILLILPTVSLIENKLLKW
UniProt ID: Q9TF95
Variant: M -> V at position 60-60
Variant annotation: in strain: Isolate S104
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:
MTNIRKTHPLFKIVSHSFIDLPAPSNISAWWNFGSLLGLCLAIQILTGLFLAMHYTSDTMTAFSSVSHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGLYYGSYTYLETWNIGVILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFIVAALIMIHLLFLHETGSNNPSGLISDSDKIPFHPYFTIKDILGALLLILILMILVLFMPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALIFSILILMLFPLLHMSKQRSMTFRPLSQCLFWVLVADLLALTWIGGQPVEYPFIIIGQLASILYFSIILLMIPTVSLIENKLLKW
UniProt ID: Q9TH46
Variant: G -> E at position 340-340
Variant annotation: in strain: Isolate USNM 583155
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:
MTNTRKIHPLIKIINHSFIDLPAPSNISTWWNFGSLLGLCLAIQIFTGLFLAMHYTSDTMTAFSSVAHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGMYYGSYTYSETWNIGVILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSATPYIGTTLVEWIWGGFSVDKATLTRFFAFHFVLPFIIAALVMVHLLFLHETGSNNPSGLISDSDKIPFHPYFTIKDILGAVLLILILMILVLFSPDLLGDPDNYTPANPLNTPFHIKPEWYFLFAYAILRSIPNKLGGVLALIFSILILMLFPLLHLSKQRSMMFRPLSQCVFWILVADLITLTWIGGQSTEYPYNIIGQLASILYFAIILLILPTISLIENKLLKW
UniProt ID: Q9TRY9
Variant: Q -> P at position 280-280
Protein function: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.
Reference sequence:
MARPAAVRVLWALLLPLLLGSARGLRNASQRTFTIDYSHNRFLKDGQPFRYISGSIHYSRVPRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPQPGQYQFSGEQDVEYFIKLAHELGLLVILRPGPYICAEWDMGGLPAWLLLKESIILRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPIITMQVENEYGSYFTCDYDYLRFLQKLFHHHLGNDVLLFTTDGANEKFLQCGALQGLYATVDFGPGANITAAFQIQRKSEPKGPLVNSEFYTGWLDHWGQPHSTVRTEVVASSLHDILAHGANVNLYMFIGGTNFAYWNGANMPYQAQPTSYDYDAPLSEAGDLTEKYFALREVIRKFEKVPEGFIPPSTPKFAYGKVALKKLKTVEEALNVLCPPGPINSLYPLTFIQVKQYFGFVMYRTTLPQDCSDPTPLSSPLSGVHDRAYVSVDGVPQGVMERSNVITLNITGKAGATLDLLVENMGRVNYGRYINDFKGLISNLTLGSSILTNWMIFPLNTEDAVRSHLGGWHGPNNGRHDKTFAHRSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQMTLFVPRHILVTSTPNTIMVLELEHAPCGDSGPEVCTVEFVDRPVIGAPPTPGHPPPDLSHRDLRLDYV
UniProt ID: Q9TRY9
Variant: D -> V at position 442-442
Protein function: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.
Reference sequence:
MARPAAVRVLWALLLPLLLGSARGLRNASQRTFTIDYSHNRFLKDGQPFRYISGSIHYSRVPRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPQPGQYQFSGEQDVEYFIKLAHELGLLVILRPGPYICAEWDMGGLPAWLLLKESIILRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPIITMQVENEYGSYFTCDYDYLRFLQKLFHHHLGNDVLLFTTDGANEKFLQCGALQGLYATVDFGPGANITAAFQIQRKSEPKGPLVNSEFYTGWLDHWGQPHSTVRTEVVASSLHDILAHGANVNLYMFIGGTNFAYWNGANMPYQAQPTSYDYDAPLSEAGDLTEKYFALREVIRKFEKVPEGFIPPSTPKFAYGKVALKKLKTVEEALNVLCPPGPINSLYPLTFIQVKQYFGFVMYRTTLPQDCSDPTPLSSPLSGVHDRAYVSVDGVPQGVMERSNVITLNITGKAGATLDLLVENMGRVNYGRYINDFKGLISNLTLGSSILTNWMIFPLNTEDAVRSHLGGWHGPNNGRHDKTFAHRSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQMTLFVPRHILVTSTPNTIMVLELEHAPCGDSGPEVCTVEFVDRPVIGAPPTPGHPPPDLSHRDLRLDYV
UniProt ID: Q9TRY9
Variant: A -> V at position 444-444
Protein function: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.
Reference sequence:
MARPAAVRVLWALLLPLLLGSARGLRNASQRTFTIDYSHNRFLKDGQPFRYISGSIHYSRVPRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPQPGQYQFSGEQDVEYFIKLAHELGLLVILRPGPYICAEWDMGGLPAWLLLKESIILRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPIITMQVENEYGSYFTCDYDYLRFLQKLFHHHLGNDVLLFTTDGANEKFLQCGALQGLYATVDFGPGANITAAFQIQRKSEPKGPLVNSEFYTGWLDHWGQPHSTVRTEVVASSLHDILAHGANVNLYMFIGGTNFAYWNGANMPYQAQPTSYDYDAPLSEAGDLTEKYFALREVIRKFEKVPEGFIPPSTPKFAYGKVALKKLKTVEEALNVLCPPGPINSLYPLTFIQVKQYFGFVMYRTTLPQDCSDPTPLSSPLSGVHDRAYVSVDGVPQGVMERSNVITLNITGKAGATLDLLVENMGRVNYGRYINDFKGLISNLTLGSSILTNWMIFPLNTEDAVRSHLGGWHGPNNGRHDKTFAHRSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQMTLFVPRHILVTSTPNTIMVLELEHAPCGDSGPEVCTVEFVDRPVIGAPPTPGHPPPDLSHRDLRLDYV
UniProt ID: Q9TSN6
Variant: I -> S at position 12-12
Variant annotation: in allele D
Protein function: Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.
Reference sequence:
MMSFVSLLLVGILFHATQAEQLTKCEVFRELKDLKDYGGVSLPEWVCTAFHTSGYDTQAIVQNNDSTEYGLFQINNKIWCKDDQNPHSSNICNISCDKFLDDDLTDDIMCVKKILDKVGINYWLAHKALCSEKLDQWLCEKL
UniProt ID: Q9TSN6
Variant: K -> R at position 32-32
Variant annotation: in allele B and allele D
Protein function: Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.
Reference sequence:
MMSFVSLLLVGILFHATQAEQLTKCEVFRELKDLKDYGGVSLPEWVCTAFHTSGYDTQAIVQNNDSTEYGLFQINNKIWCKDDQNPHSSNICNISCDKFLDDDLTDDIMCVKKILDKVGINYWLAHKALCSEKLDQWLCEKL
UniProt ID: Q9TSN6
Variant: K -> A at position 35-35
Variant annotation: in allele B
Protein function: Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.
Reference sequence:
MMSFVSLLLVGILFHATQAEQLTKCEVFRELKDLKDYGGVSLPEWVCTAFHTSGYDTQAIVQNNDSTEYGLFQINNKIWCKDDQNPHSSNICNISCDKFLDDDLTDDIMCVKKILDKVGINYWLAHKALCSEKLDQWLCEKL
UniProt ID: Q9TSN6
Variant: G -> C at position 39-39
Variant annotation: in allele C
Protein function: Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.
Reference sequence:
MMSFVSLLLVGILFHATQAEQLTKCEVFRELKDLKDYGGVSLPEWVCTAFHTSGYDTQAIVQNNDSTEYGLFQINNKIWCKDDQNPHSSNICNISCDKFLDDDLTDDIMCVKKILDKVGINYWLAHKALCSEKLDQWLCEKL
UniProt ID: Q9TSN6
Variant: P -> S at position 43-43
Variant annotation: in allele E
Protein function: Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.
Reference sequence:
MMSFVSLLLVGILFHATQAEQLTKCEVFRELKDLKDYGGVSLPEWVCTAFHTSGYDTQAIVQNNDSTEYGLFQINNKIWCKDDQNPHSSNICNISCDKFLDDDLTDDIMCVKKILDKVGINYWLAHKALCSEKLDQWLCEKL
UniProt ID: Q9TSN6
Variant: E -> D at position 68-68
Variant annotation: in allele C
Protein function: Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.
Reference sequence:
MMSFVSLLLVGILFHATQAEQLTKCEVFRELKDLKDYGGVSLPEWVCTAFHTSGYDTQAIVQNNDSTEYGLFQINNKIWCKDDQNPHSSNICNISCDKFLDDDLTDDIMCVKKILDKVGINYWLAHKALCSEKLDQWLCEKL
UniProt ID: Q9TSN6
Variant: N -> K at position 85-85
Variant annotation: in allele E
Protein function: Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.
Reference sequence:
MMSFVSLLLVGILFHATQAEQLTKCEVFRELKDLKDYGGVSLPEWVCTAFHTSGYDTQAIVQNNDSTEYGLFQINNKIWCKDDQNPHSSNICNISCDKFLDDDLTDDIMCVKKILDKVGINYWLAHKALCSEKLDQWLCEKL
UniProt ID: Q9TSN6
Variant: N -> M at position 85-85
Variant annotation: in allele C
Protein function: Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.
Reference sequence:
MMSFVSLLLVGILFHATQAEQLTKCEVFRELKDLKDYGGVSLPEWVCTAFHTSGYDTQAIVQNNDSTEYGLFQINNKIWCKDDQNPHSSNICNISCDKFLDDDLTDDIMCVKKILDKVGINYWLAHKALCSEKLDQWLCEKL
UniProt ID: Q9TSN6
Variant: N -> K at position 93-93
Variant annotation: in allele C
Protein function: Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.
Reference sequence:
MMSFVSLLLVGILFHATQAEQLTKCEVFRELKDLKDYGGVSLPEWVCTAFHTSGYDTQAIVQNNDSTEYGLFQINNKIWCKDDQNPHSSNICNISCDKFLDDDLTDDIMCVKKILDKVGINYWLAHKALCSEKLDQWLCEKL
UniProt ID: Q9TSN6
Variant: C -> G at position 96-96
Variant annotation: in allele C, allele D and allele E
Protein function: Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.
Reference sequence:
MMSFVSLLLVGILFHATQAEQLTKCEVFRELKDLKDYGGVSLPEWVCTAFHTSGYDTQAIVQNNDSTEYGLFQINNKIWCKDDQNPHSSNICNISCDKFLDDDLTDDIMCVKKILDKVGINYWLAHKALCSEKLDQWLCEKL
UniProt ID: Q9TUP7
Variant: E -> K at position 54-54
Variant annotation: in narcolepsy; autosomal recessive; loss of function
Effect: loss
Protein function: Nonselective, high-affinity receptor for both orexin-A and orexin-B neuropeptides. Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding.
Reference sequence:
MSGTKLEDSPPCRNWSSAPELNETQEPFLNPTDYDDEEFLRYLWREYLHPKEYEWVLIAGYIIVFVVALVGNVLVCVAVWKNHHMRTVTNYFIVNLSLADVLVTITCLPATLVVDITETWFFGQSLCKVIPYLQTVSVSVSVLTLSCIALDRWYAICHPLMFKSTAKRARNSIVIIWIVSCIIMIPQAIVMECSTMLPGLANKTTLFTVCDERWGGEIYPKMYHICFFLVTYMAPLCLMVLAYLQIFRKLWCRQIPGTSSVVQRKWKPLQPASQPRGPGQQTKSRISAVAAEIKQIRARRKTARMLMVVLLVFAICYLPISILNVLKRVFGMFTHTEDRETVYAWFTFSHWLVYANSAANPIIYNFLSGKFREEFKAAFSCCCLGVHHRQEDRLTRGRTSTESRKSLTTQISNFDNVSKLSEQVVLTSISTLPAANGAGPLQNW
UniProt ID: Q9TUZ0
Variant: P -> L at position 153-153
Protein function: Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation.
Reference sequence:
MAVWIQAQQLQGDALHQMQALYGQHFPIEVRHYLSQWIESQAWDSIDLDNPQENIKATQLLEGLVQELQKKAEHQVGEDGFLLKIKLGHYATQLQNTYDRCPMELVRCIRHILYNEQRLVREANNGTSPAGSLADAMSQKHLQINQTFEELRPVTQDTENELKKLQQTQEYFIIQYQESLRIQAQFAQLAQLNPQERLSRETALQQKQVTLEAWLQREAQTLQQYRVELAEKHQKTLQLLRKQQTIILDDELIQWKRRQQLAGNGGPPEGSLDVLQSWCEKLAEIIWQNRQQIRRAEHLCQQLPIPGPVEEMLAEVNATITDIISALVTSTFIIEKQPPQVLKTQTKFAATVRLLVGGKLNVHMNPPQVKATIISEQRAKSLLKNESTRNDCSGEILNNCCVMEYHQATGTLSAHFRNMSLKRIKRSDRRGAESVTEEKFTILFESQFSVGGNELVFQVKTLSLPVVVIVHGSQDNNATATVLWDNAFAEPGRVPFAVPDKVLWPQLCEALNMKFKAEVQSNRGLTKENLVFLAQKLFNSSSSHLEDYSGMSVSWSQFNRENLPGRNYTFWQWFDGVMEVLKKHLKPHWNDGAILGFVNKQQAHDLLINKPDGTFLLRFSDSEIGGITIAWKFDSQERMFWNLMPFTTRDFSIRSLADRLGDLNYLIYVFPDRPKDEVYSKYYTPVPCEPATAKAVDGYVKPQIKQVVPEFVSASSDSAGGNATYMDQAPSPAVCPQAHYSIYPQNPDPVLDNDGDFDLDDTMDVARRVEELLGRPMDSQWIPHAQS
UniProt ID: Q9TUZ0
Variant: R -> Q at position 378-378
Protein function: Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation.
Reference sequence:
MAVWIQAQQLQGDALHQMQALYGQHFPIEVRHYLSQWIESQAWDSIDLDNPQENIKATQLLEGLVQELQKKAEHQVGEDGFLLKIKLGHYATQLQNTYDRCPMELVRCIRHILYNEQRLVREANNGTSPAGSLADAMSQKHLQINQTFEELRPVTQDTENELKKLQQTQEYFIIQYQESLRIQAQFAQLAQLNPQERLSRETALQQKQVTLEAWLQREAQTLQQYRVELAEKHQKTLQLLRKQQTIILDDELIQWKRRQQLAGNGGPPEGSLDVLQSWCEKLAEIIWQNRQQIRRAEHLCQQLPIPGPVEEMLAEVNATITDIISALVTSTFIIEKQPPQVLKTQTKFAATVRLLVGGKLNVHMNPPQVKATIISEQRAKSLLKNESTRNDCSGEILNNCCVMEYHQATGTLSAHFRNMSLKRIKRSDRRGAESVTEEKFTILFESQFSVGGNELVFQVKTLSLPVVVIVHGSQDNNATATVLWDNAFAEPGRVPFAVPDKVLWPQLCEALNMKFKAEVQSNRGLTKENLVFLAQKLFNSSSSHLEDYSGMSVSWSQFNRENLPGRNYTFWQWFDGVMEVLKKHLKPHWNDGAILGFVNKQQAHDLLINKPDGTFLLRFSDSEIGGITIAWKFDSQERMFWNLMPFTTRDFSIRSLADRLGDLNYLIYVFPDRPKDEVYSKYYTPVPCEPATAKAVDGYVKPQIKQVVPEFVSASSDSAGGNATYMDQAPSPAVCPQAHYSIYPQNPDPVLDNDGDFDLDDTMDVARRVEELLGRPMDSQWIPHAQS