sujigwak/NVAR huggingface dataset:
UniProt ID: Q99PG6
Variant: D -> A at position 281-281
Variant annotation: in strain: 129/J
Protein function: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate) and also to most of the 20 standard L-amino acids, but not to their D-enantiomers or other compounds. Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses.
Reference sequence:
MLFWAAHLLLSLQLAVAYCWAFSCQRTESSPGFSLPGDFLLAGLFSLHADCLQVRHRPLVTSCDRSDSFNGHGYHLFQAMRFTVEEINNSTALLPNITLGYELYDVCSESSNVYATLRVLAQQGTGHLEMQRDLRNHSSKVVALIGPDNTDHAVTTAALLSPFLMPLVSYEASSVILSGKRKFPSFLRTIPSDKYQVEVIVRLLQSFGWVWISLVGSYGDYGQLGVQALEELATPRGICVAFKNVVPLSAQAGDPRMQRMMLRLARARTTVVVVFSNRHLDGVFFRSVVLANLTGKVWIASEDWAISTNIPNVSGIQGIGTVLGVAIQQRQVPGLKEFEESYVQAVMGAPRTCPEGSWCGTNQLCRECHAFTTWNMPELGAFSMSAAYNVYEAVYAVAHGLHQLLGCTSGTCARGPVHPWQLLQQIYKVNFLLHKKTVAFDDKGDPLGYYDIIAWDWNGPEWTFEVIGSASLSPVHLDINKTKIQWHGKNNQVPVSVCTRDCLEGHHRLVMGSHHCCFECMPCEAGTFLNTSELHTCQPCGTEEWAPEGSSACFSRTVEFLGWHEPISLVLLAANTLLLLLLIGTAGLFAWRLHTPVVRSAGGRLCFLMLGSLVAGSCSLYSFFGKPTVPACLLRQPLFSLGFAIFLSCLTIRSFQLVIIFKFSTKVPTFYHTWAQNHGAGIFVIVSSTVHLFLCLTWLAMWTPRPTREYQRFPHLVILECTEVNSVGFLVAFAHNILLSISTFVCSYLGKELPENYNEAKCVTFSLLLHFVSWIAFFTMSSIYQGSYLPAVNVLAGLATLSGGFSGYFLPKCYVILCRPELNNTEHFQASIQDYTRRCGTT
UniProt ID: Q99PG6
Variant: NIPNVS -> YITNVP at position 309-314
Variant annotation: in strain: 129/J
Protein function: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate) and also to most of the 20 standard L-amino acids, but not to their D-enantiomers or other compounds. Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses.
Reference sequence:
MLFWAAHLLLSLQLAVAYCWAFSCQRTESSPGFSLPGDFLLAGLFSLHADCLQVRHRPLVTSCDRSDSFNGHGYHLFQAMRFTVEEINNSTALLPNITLGYELYDVCSESSNVYATLRVLAQQGTGHLEMQRDLRNHSSKVVALIGPDNTDHAVTTAALLSPFLMPLVSYEASSVILSGKRKFPSFLRTIPSDKYQVEVIVRLLQSFGWVWISLVGSYGDYGQLGVQALEELATPRGICVAFKNVVPLSAQAGDPRMQRMMLRLARARTTVVVVFSNRHLDGVFFRSVVLANLTGKVWIASEDWAISTNIPNVSGIQGIGTVLGVAIQQRQVPGLKEFEESYVQAVMGAPRTCPEGSWCGTNQLCRECHAFTTWNMPELGAFSMSAAYNVYEAVYAVAHGLHQLLGCTSGTCARGPVHPWQLLQQIYKVNFLLHKKTVAFDDKGDPLGYYDIIAWDWNGPEWTFEVIGSASLSPVHLDINKTKIQWHGKNNQVPVSVCTRDCLEGHHRLVMGSHHCCFECMPCEAGTFLNTSELHTCQPCGTEEWAPEGSSACFSRTVEFLGWHEPISLVLLAANTLLLLLLIGTAGLFAWRLHTPVVRSAGGRLCFLMLGSLVAGSCSLYSFFGKPTVPACLLRQPLFSLGFAIFLSCLTIRSFQLVIIFKFSTKVPTFYHTWAQNHGAGIFVIVSSTVHLFLCLTWLAMWTPRPTREYQRFPHLVILECTEVNSVGFLVAFAHNILLSISTFVCSYLGKELPENYNEAKCVTFSLLLHFVSWIAFFTMSSIYQGSYLPAVNVLAGLATLSGGFSGYFLPKCYVILCRPELNNTEHFQASIQDYTRRCGTT
UniProt ID: Q99PG6
Variant: M -> T at position 347-347
Variant annotation: in strain: 129/J
Protein function: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate) and also to most of the 20 standard L-amino acids, but not to their D-enantiomers or other compounds. Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses.
Reference sequence:
MLFWAAHLLLSLQLAVAYCWAFSCQRTESSPGFSLPGDFLLAGLFSLHADCLQVRHRPLVTSCDRSDSFNGHGYHLFQAMRFTVEEINNSTALLPNITLGYELYDVCSESSNVYATLRVLAQQGTGHLEMQRDLRNHSSKVVALIGPDNTDHAVTTAALLSPFLMPLVSYEASSVILSGKRKFPSFLRTIPSDKYQVEVIVRLLQSFGWVWISLVGSYGDYGQLGVQALEELATPRGICVAFKNVVPLSAQAGDPRMQRMMLRLARARTTVVVVFSNRHLDGVFFRSVVLANLTGKVWIASEDWAISTNIPNVSGIQGIGTVLGVAIQQRQVPGLKEFEESYVQAVMGAPRTCPEGSWCGTNQLCRECHAFTTWNMPELGAFSMSAAYNVYEAVYAVAHGLHQLLGCTSGTCARGPVHPWQLLQQIYKVNFLLHKKTVAFDDKGDPLGYYDIIAWDWNGPEWTFEVIGSASLSPVHLDINKTKIQWHGKNNQVPVSVCTRDCLEGHHRLVMGSHHCCFECMPCEAGTFLNTSELHTCQPCGTEEWAPEGSSACFSRTVEFLGWHEPISLVLLAANTLLLLLLIGTAGLFAWRLHTPVVRSAGGRLCFLMLGSLVAGSCSLYSFFGKPTVPACLLRQPLFSLGFAIFLSCLTIRSFQLVIIFKFSTKVPTFYHTWAQNHGAGIFVIVSSTVHLFLCLTWLAMWTPRPTREYQRFPHLVILECTEVNSVGFLVAFAHNILLSISTFVCSYLGKELPENYNEAKCVTFSLLLHFVSWIAFFTMSSIYQGSYLPAVNVLAGLATLSGGFSGYFLPKCYVILCRPELNNTEHFQASIQDYTRRCGTT
UniProt ID: Q99PG6
Variant: H -> Y at position 418-418
Variant annotation: in strain: 129/J
Protein function: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate) and also to most of the 20 standard L-amino acids, but not to their D-enantiomers or other compounds. Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses.
Reference sequence:
MLFWAAHLLLSLQLAVAYCWAFSCQRTESSPGFSLPGDFLLAGLFSLHADCLQVRHRPLVTSCDRSDSFNGHGYHLFQAMRFTVEEINNSTALLPNITLGYELYDVCSESSNVYATLRVLAQQGTGHLEMQRDLRNHSSKVVALIGPDNTDHAVTTAALLSPFLMPLVSYEASSVILSGKRKFPSFLRTIPSDKYQVEVIVRLLQSFGWVWISLVGSYGDYGQLGVQALEELATPRGICVAFKNVVPLSAQAGDPRMQRMMLRLARARTTVVVVFSNRHLDGVFFRSVVLANLTGKVWIASEDWAISTNIPNVSGIQGIGTVLGVAIQQRQVPGLKEFEESYVQAVMGAPRTCPEGSWCGTNQLCRECHAFTTWNMPELGAFSMSAAYNVYEAVYAVAHGLHQLLGCTSGTCARGPVHPWQLLQQIYKVNFLLHKKTVAFDDKGDPLGYYDIIAWDWNGPEWTFEVIGSASLSPVHLDINKTKIQWHGKNNQVPVSVCTRDCLEGHHRLVMGSHHCCFECMPCEAGTFLNTSELHTCQPCGTEEWAPEGSSACFSRTVEFLGWHEPISLVLLAANTLLLLLLIGTAGLFAWRLHTPVVRSAGGRLCFLMLGSLVAGSCSLYSFFGKPTVPACLLRQPLFSLGFAIFLSCLTIRSFQLVIIFKFSTKVPTFYHTWAQNHGAGIFVIVSSTVHLFLCLTWLAMWTPRPTREYQRFPHLVILECTEVNSVGFLVAFAHNILLSISTFVCSYLGKELPENYNEAKCVTFSLLLHFVSWIAFFTMSSIYQGSYLPAVNVLAGLATLSGGFSGYFLPKCYVILCRPELNNTEHFQASIQDYTRRCGTT
UniProt ID: Q99PG6
Variant: K -> N at position 443-443
Variant annotation: in strain: 129/J
Protein function: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate) and also to most of the 20 standard L-amino acids, but not to their D-enantiomers or other compounds. Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses.
Reference sequence:
MLFWAAHLLLSLQLAVAYCWAFSCQRTESSPGFSLPGDFLLAGLFSLHADCLQVRHRPLVTSCDRSDSFNGHGYHLFQAMRFTVEEINNSTALLPNITLGYELYDVCSESSNVYATLRVLAQQGTGHLEMQRDLRNHSSKVVALIGPDNTDHAVTTAALLSPFLMPLVSYEASSVILSGKRKFPSFLRTIPSDKYQVEVIVRLLQSFGWVWISLVGSYGDYGQLGVQALEELATPRGICVAFKNVVPLSAQAGDPRMQRMMLRLARARTTVVVVFSNRHLDGVFFRSVVLANLTGKVWIASEDWAISTNIPNVSGIQGIGTVLGVAIQQRQVPGLKEFEESYVQAVMGAPRTCPEGSWCGTNQLCRECHAFTTWNMPELGAFSMSAAYNVYEAVYAVAHGLHQLLGCTSGTCARGPVHPWQLLQQIYKVNFLLHKKTVAFDDKGDPLGYYDIIAWDWNGPEWTFEVIGSASLSPVHLDINKTKIQWHGKNNQVPVSVCTRDCLEGHHRLVMGSHHCCFECMPCEAGTFLNTSELHTCQPCGTEEWAPEGSSACFSRTVEFLGWHEPISLVLLAANTLLLLLLIGTAGLFAWRLHTPVVRSAGGRLCFLMLGSLVAGSCSLYSFFGKPTVPACLLRQPLFSLGFAIFLSCLTIRSFQLVIIFKFSTKVPTFYHTWAQNHGAGIFVIVSSTVHLFLCLTWLAMWTPRPTREYQRFPHLVILECTEVNSVGFLVAFAHNILLSISTFVCSYLGKELPENYNEAKCVTFSLLLHFVSWIAFFTMSSIYQGSYLPAVNVLAGLATLSGGFSGYFLPKCYVILCRPELNNTEHFQASIQDYTRRCGTT
UniProt ID: Q99PG6
Variant: K -> E at position 626-626
Variant annotation: in strain: 129/J
Protein function: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate) and also to most of the 20 standard L-amino acids, but not to their D-enantiomers or other compounds. Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses.
Reference sequence:
MLFWAAHLLLSLQLAVAYCWAFSCQRTESSPGFSLPGDFLLAGLFSLHADCLQVRHRPLVTSCDRSDSFNGHGYHLFQAMRFTVEEINNSTALLPNITLGYELYDVCSESSNVYATLRVLAQQGTGHLEMQRDLRNHSSKVVALIGPDNTDHAVTTAALLSPFLMPLVSYEASSVILSGKRKFPSFLRTIPSDKYQVEVIVRLLQSFGWVWISLVGSYGDYGQLGVQALEELATPRGICVAFKNVVPLSAQAGDPRMQRMMLRLARARTTVVVVFSNRHLDGVFFRSVVLANLTGKVWIASEDWAISTNIPNVSGIQGIGTVLGVAIQQRQVPGLKEFEESYVQAVMGAPRTCPEGSWCGTNQLCRECHAFTTWNMPELGAFSMSAAYNVYEAVYAVAHGLHQLLGCTSGTCARGPVHPWQLLQQIYKVNFLLHKKTVAFDDKGDPLGYYDIIAWDWNGPEWTFEVIGSASLSPVHLDINKTKIQWHGKNNQVPVSVCTRDCLEGHHRLVMGSHHCCFECMPCEAGTFLNTSELHTCQPCGTEEWAPEGSSACFSRTVEFLGWHEPISLVLLAANTLLLLLLIGTAGLFAWRLHTPVVRSAGGRLCFLMLGSLVAGSCSLYSFFGKPTVPACLLRQPLFSLGFAIFLSCLTIRSFQLVIIFKFSTKVPTFYHTWAQNHGAGIFVIVSSTVHLFLCLTWLAMWTPRPTREYQRFPHLVILECTEVNSVGFLVAFAHNILLSISTFVCSYLGKELPENYNEAKCVTFSLLLHFVSWIAFFTMSSIYQGSYLPAVNVLAGLATLSGGFSGYFLPKCYVILCRPELNNTEHFQASIQDYTRRCGTT
UniProt ID: Q9B0S2
Variant: M -> V at position 129-129
Variant annotation: in strain: Isolate TK 22845
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:
MTNIRKTHPLLKIVNDSLVDLPVPSSVSSWWNFGSLLAACLAVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWILRYLHANGASMFFICLYIHVGRGLYYGSYMYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIIAALVVVHLLFLHETGSSNPTGIPSDPDMVPFHPYHTIKDILGILMMLTALSMLVLFSPDLLGDPDNYIPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAVIPLLHTSKQRSMMFRPLSQCMFWLLVADLLTLTWIGGQPVEHPYIIIGQMASILYFTIILLLMPLASMMENHLLKW
UniProt ID: Q9B1N0
Variant: A -> T at position 39-39
Variant annotation: in strain: Isolate TK 25127
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:
MTNIRKTHPLLKIVNDSLVDLPVPSSVSSWWNFGSLLAACLAVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWILRYLHANGASMFFICLYIHIGRGLYYGSYMYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIIAALVMVHLLFLHETGSSNPTGIPSDPDMVPFHPYHTIKDILGILMMLTALSMLVLFSPDLLGDPDNYIPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAIVPLLHTSKQRSMMFRPLSQCMFWLLVADLLTLTWIGGQPVEHPYIIIGQMASILYFTIILLLMPLVSMMENHLLKW
UniProt ID: Q9B1N0
Variant: I -> V at position 98-98
Variant annotation: in strain: Isolate TK 15571 and Isolate TK 25127
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:
MTNIRKTHPLLKIVNDSLVDLPVPSSVSSWWNFGSLLAACLAVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWILRYLHANGASMFFICLYIHIGRGLYYGSYMYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIIAALVMVHLLFLHETGSSNPTGIPSDPDMVPFHPYHTIKDILGILMMLTALSMLVLFSPDLLGDPDNYIPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAIVPLLHTSKQRSMMFRPLSQCMFWLLVADLLTLTWIGGQPVEHPYIIIGQMASILYFTIILLLMPLVSMMENHLLKW
UniProt ID: Q9B1N0
Variant: M -> V at position 194-194
Variant annotation: in strain: Isolate TK 15571 and Isolate TK 25127
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:
MTNIRKTHPLLKIVNDSLVDLPVPSSVSSWWNFGSLLAACLAVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWILRYLHANGASMFFICLYIHIGRGLYYGSYMYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIIAALVMVHLLFLHETGSSNPTGIPSDPDMVPFHPYHTIKDILGILMMLTALSMLVLFSPDLLGDPDNYIPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAIVPLLHTSKQRSMMFRPLSQCMFWLLVADLLTLTWIGGQPVEHPYIIIGQMASILYFTIILLLMPLVSMMENHLLKW
UniProt ID: Q9B1N0
Variant: IV -> VI at position 303-304
Variant annotation: in strain: Isolate TK 15571 and Isolate TK 25127
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:
MTNIRKTHPLLKIVNDSLVDLPVPSSVSSWWNFGSLLAACLAVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWILRYLHANGASMFFICLYIHIGRGLYYGSYMYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIIAALVMVHLLFLHETGSSNPTGIPSDPDMVPFHPYHTIKDILGILMMLTALSMLVLFSPDLLGDPDNYIPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAIVPLLHTSKQRSMMFRPLSQCMFWLLVADLLTLTWIGGQPVEHPYIIIGQMASILYFTIILLLMPLVSMMENHLLKW
UniProt ID: Q9B1N0
Variant: M -> T at position 316-316
Variant annotation: in strain: Isolate TK 15571
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:
MTNIRKTHPLLKIVNDSLVDLPVPSSVSSWWNFGSLLAACLAVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWILRYLHANGASMFFICLYIHIGRGLYYGSYMYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIIAALVMVHLLFLHETGSSNPTGIPSDPDMVPFHPYHTIKDILGILMMLTALSMLVLFSPDLLGDPDNYIPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAIVPLLHTSKQRSMMFRPLSQCMFWLLVADLLTLTWIGGQPVEHPYIIIGQMASILYFTIILLLMPLVSMMENHLLKW
UniProt ID: Q9B1N0
Variant: M -> V at position 353-353
Variant annotation: in strain: Isolate TK 15571 and Isolate TK 25127
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:
MTNIRKTHPLLKIVNDSLVDLPVPSSVSSWWNFGSLLAACLAVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWILRYLHANGASMFFICLYIHIGRGLYYGSYMYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIIAALVMVHLLFLHETGSSNPTGIPSDPDMVPFHPYHTIKDILGILMMLTALSMLVLFSPDLLGDPDNYIPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAIVPLLHTSKQRSMMFRPLSQCMFWLLVADLLTLTWIGGQPVEHPYIIIGQMASILYFTIILLLMPLVSMMENHLLKW
UniProt ID: Q9B5Q1
Variant: R -> Q at position 5-5
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:
MTNIRKTHPLLKIVNNAFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMHYTADTTTAFSSVTHICRDVNYGWIIRYMHANGASMFFICLFMHVGRGLYYGSYAYTETWNIGVILLFATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFIFPFIIAALAMVHLLFLHETGSNNPTGISSDADKIPFHPYYTIKDILGVLLLILALMTLVLFSPDLLGDPDNYPPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILILMPLLHTSKQRSMMFRPISQCLFWILVADLLTLTWIGGQPVEHPYIIIGQLASIMYFLLILVLMPTASTIENNLLKW
UniProt ID: Q9B5Q1
Variant: V -> E at position 14-14
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:
MTNIRKTHPLLKIVNNAFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMHYTADTTTAFSSVTHICRDVNYGWIIRYMHANGASMFFICLFMHVGRGLYYGSYAYTETWNIGVILLFATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFIFPFIIAALAMVHLLFLHETGSNNPTGISSDADKIPFHPYYTIKDILGVLLLILALMTLVLFSPDLLGDPDNYPPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILILMPLLHTSKQRSMMFRPISQCLFWILVADLLTLTWIGGQPVEHPYIIIGQLASIMYFLLILVLMPTASTIENNLLKW
UniProt ID: Q9B5Q1
Variant: T -> M at position 110-110
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:
MTNIRKTHPLLKIVNNAFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMHYTADTTTAFSSVTHICRDVNYGWIIRYMHANGASMFFICLFMHVGRGLYYGSYAYTETWNIGVILLFATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFIFPFIIAALAMVHLLFLHETGSNNPTGISSDADKIPFHPYYTIKDILGVLLLILALMTLVLFSPDLLGDPDNYPPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILILMPLLHTSKQRSMMFRPISQCLFWILVADLLTLTWIGGQPVEHPYIIIGQLASIMYFLLILVLMPTASTIENNLLKW
UniProt ID: Q9B5Q1
Variant: V -> A at position 232-232
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:
MTNIRKTHPLLKIVNNAFIDLPAPSNISSWWNFGSLLGICLILQILTGLFLAMHYTADTTTAFSSVTHICRDVNYGWIIRYMHANGASMFFICLFMHVGRGLYYGSYAYTETWNIGVILLFATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFIFPFIIAALAMVHLLFLHETGSNNPTGISSDADKIPFHPYYTIKDILGVLLLILALMTLVLFSPDLLGDPDNYPPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILILMPLLHTSKQRSMMFRPISQCLFWILVADLLTLTWIGGQPVEHPYIIIGQLASIMYFLLILVLMPTASTIENNLLKW
UniProt ID: Q9BBN0
Variant: M -> I at position 49-49
Protein function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.
Reference sequence:
MLKDGTSVSNEVIQWKCVEFRIESKRLHYGRFVISPFKKGQANTVGIAMRRALLGEVGGASITSARFEGVAHEYSTVAGIQETIHDILVNLKEIVLRSDSDGNQKAILSVTGPKRVTAGDISLPPSVKVIDDSQYIVTITQPISVNIELNIECDCGYRIESLNEYRDGEFPVDAVFMPVRNVNYSVHPFGSGKEMREILFIEVWTNGSLTPTEAISKASKSSIDLLSPFLHTKHEDIPDFESNRDSSSLMKFSSRVDDVDKSEGDFFKNTFIDQLELPARAFNCLKRAEIHTISDLLSYSRDDLLKLKSFGKKSVDQVSRALWERFATELPNEKPRVVGDE
UniProt ID: Q9BBN0
Variant: M -> T at position 49-49
Protein function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.
Reference sequence:
MLKDGTSVSNEVIQWKCVEFRIESKRLHYGRFVISPFKKGQANTVGIAMRRALLGEVGGASITSARFEGVAHEYSTVAGIQETIHDILVNLKEIVLRSDSDGNQKAILSVTGPKRVTAGDISLPPSVKVIDDSQYIVTITQPISVNIELNIECDCGYRIESLNEYRDGEFPVDAVFMPVRNVNYSVHPFGSGKEMREILFIEVWTNGSLTPTEAISKASKSSIDLLSPFLHTKHEDIPDFESNRDSSSLMKFSSRVDDVDKSEGDFFKNTFIDQLELPARAFNCLKRAEIHTISDLLSYSRDDLLKLKSFGKKSVDQVSRALWERFATELPNEKPRVVGDE
UniProt ID: Q9BDI7
Variant: G -> S at position 302-302
Protein function: Interferon-induced dynamin-like GTPase with antiviral activity against vesicular stomatitis virus (VSV).
Reference sequence:
MSMSFRPLKYKRHTQTSTQHHPKQDIYFHQQPPGPPLGQTMSPPQWQVEESNPDFLPNNFNQLNLDPQQPEAKGGQQMSKGPENNLYRKYEEKVRPCIDLIDSLRALGVEQDLALPAIAVIGDQSSGKSSVLEALSGVALPRGSGIITRCPLVLKLTKRECEWTGKITYRNITQQLQNPSEVEWEIRRAQNIIAGNGLGISHELINLEITSPEVPDLTLIDLPGITRVAVENQPQDIGLQIKALIKKYIQRQETINLVVVPCNVDIATTEALSMAQEVDPDGDRTIGILTKPDLVDKGTEKGVLKVMQNLTYHLKKGYMIVKCRGQQDITNKLSLAEATRKETMFFETHPYFRILLDEGKATVPLLAERLTTELIWHINKSLPLLENQIKEKHQRATEELQQYGDDIPSDEGDKMFFLIEKIKVFNEDIGKLIEGEEIVMETESRLCNKIREEFTSWILILTTNIEKVKSILNEEVSKYEKKYRGKELLGFVNYKTFETVVKHYLGQLIDPALKMLQKAMEIVWQTFKDTAKKHFAEFCNLHQTVQNKIEDIKTKQMAEAANLIQLQFRMEKLVFCQDQIYGVVLNKVREDIFNSMGKASETPQSKQPFLNDQSSISSIVEIGVHLNAYFMETSKRLANQIPFIIQYFMLQENGDKVQKAMMQLLQDTQHYSWLLQEQSDTATKRKFLKEKIFRLTQAQQALYEFPHFKG
UniProt ID: Q9BDI7
Variant: I -> V at position 354-354
Protein function: Interferon-induced dynamin-like GTPase with antiviral activity against vesicular stomatitis virus (VSV).
Reference sequence:
MSMSFRPLKYKRHTQTSTQHHPKQDIYFHQQPPGPPLGQTMSPPQWQVEESNPDFLPNNFNQLNLDPQQPEAKGGQQMSKGPENNLYRKYEEKVRPCIDLIDSLRALGVEQDLALPAIAVIGDQSSGKSSVLEALSGVALPRGSGIITRCPLVLKLTKRECEWTGKITYRNITQQLQNPSEVEWEIRRAQNIIAGNGLGISHELINLEITSPEVPDLTLIDLPGITRVAVENQPQDIGLQIKALIKKYIQRQETINLVVVPCNVDIATTEALSMAQEVDPDGDRTIGILTKPDLVDKGTEKGVLKVMQNLTYHLKKGYMIVKCRGQQDITNKLSLAEATRKETMFFETHPYFRILLDEGKATVPLLAERLTTELIWHINKSLPLLENQIKEKHQRATEELQQYGDDIPSDEGDKMFFLIEKIKVFNEDIGKLIEGEEIVMETESRLCNKIREEFTSWILILTTNIEKVKSILNEEVSKYEKKYRGKELLGFVNYKTFETVVKHYLGQLIDPALKMLQKAMEIVWQTFKDTAKKHFAEFCNLHQTVQNKIEDIKTKQMAEAANLIQLQFRMEKLVFCQDQIYGVVLNKVREDIFNSMGKASETPQSKQPFLNDQSSISSIVEIGVHLNAYFMETSKRLANQIPFIIQYFMLQENGDKVQKAMMQLLQDTQHYSWLLQEQSDTATKRKFLKEKIFRLTQAQQALYEFPHFKG
UniProt ID: Q9BEA2
Variant: T -> A at position 372-372
Protein function: Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism . Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. benzoate . Also catalyzes the activation of lipoate to lipoyl-nucleoside monophosphate . Activates lipoate with GTP at a 1000-fold higher rate than with ATP and activates both (R)- and (S)-lipoate to the respective lipoyl-GMP, with a preference for (R)-lipoate .
Reference sequence:
MQRLMKFRVLWGIHMSCPGFHHAPQHLRCRSLSGAGTLRWNDYDRPEEFNFASDVLDHWTQMEKEGKRSPNPALWWVNDQGDEVKWSFREMTDLTCRTANVLTQTCGLQTGDRLALILPRVPEWWLVCVGCIRTGIIFMPGTTQMKAKDILYRLQVSGAKAIVTTDTLAPEVESVAPECPSLKTKLLVSDHSREGWLDFRSLVKSASPDHICIKSKTLDPMAIFFTSGTTGFPKMAKHSHGFALRSYFPACRKLLQLKMSDVFWCLSDTGWILAALGSLLEPWTAGSTVFAHHLPQFDPKVIIETFFKYPITQCLAAPSVYRMILQQNYTSLRFPTLEHCCTGGEALLPEEQEQWKRQTGVLLYQAYGQSETGISCGTLRGMKIKPGSMGKAIPPFDIQIIDDKGNIQPPNTEGNIGIRIKPTRPIGLFMYYENNPEKTAEVECGDFYNTGDRATIDEEGYFWFLGRSDDVINASGYRVGPAEVENALAEHPAVAESAVVSSPDPVRGEVVKAFIVLNPEFSSRDPGELTKELQQHVKSVTAPYKYPRKVEFVSELPKTITGKIKRSELRKKEFGQK
UniProt ID: Q9BEG8
Variant: I -> S at position 520-520
Variant annotation: 3-fold reduction in the uptake of sulfate by fibroblasts
Protein function: Sulfate transporter. May play a role in endochondral bone formation.
Reference sequence:
MSLKNEDQNDLSPKDSVKGNDQYRAPSGIHLEPEEESRNDFWQFEPSNLFRHPRIHLEPQEKSDNNFKKFVIKKLEKSCQCSSTKAKNTIFGFLPVLQWLPKYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPIYGLYTSFFASLIYFILGTSRHISVGIFGILCLMIGEVVDRELYIAGYDTVHAASNESSLVNQISDKTCDRSCYAIIVGSTVTFVAGVYQVAMGFFQVGFVSVYLSDALLGGFVTGASFTILTSQVKYLLGLSLPRSAGVGSLITTWLHVFRNIRKTNICDLITSLLCLLVLLPTKELNERFKSKLKAPIPVELFVIVAATLASHFGKLNEKYGTSIAGHIPTGFMPPKAPDWNLIPRVAVDAIAIAIIGFAITVSLSEMFAKKHGYTVKANQEMYAIGFCNIIPSFFHCFTTSAALAKTLVKESTGCQTQVSGVMTALVLLLVLLVIAPLFFSLQKSVLGVITIVNLRGALCKFKDLPQMWRISRMDTVIWFVTMLSSALISTEIGLLTGVCFSMFCVILRTQKPKASLLGLVEDSEVFESMSAYKNLQAKSGIKIFRFVAPLYYVNKEYFKSVLYKKTLNPVLVKAAQRKAAKRKIKRETVTPSGIQDEVSVQLSHDPLEFHTIVIDCSAIQFLDTAGIHTLKEVRRDYEAVGIQVLLAQCNPSVRDSLARGEYCKKDEENLLFYSIYEAMTFAEDSQNQKERHIPNGPNFSSD
UniProt ID: Q9BM93
Variant: S -> N at position 27-27
Variant annotation: in strain: Port-Louis
Protein function: JanA and janB regulate somatic sex differentiation.
Reference sequence:
MKMFKSLSLIPRIVSPFQKCYSTDLISLVGVPRVKITKGQNRYLLVNIHTHGFTKYGRVIVRGADVDNHLAIFDSILEELEPEGICAKILGGGRILNEPDNKKIKIYGTSRTFGGADHTRTRNILQAWTTYKDFKITVKQ
UniProt ID: Q9BM93
Variant: I -> V at position 72-72
Variant annotation: in strain: 1631
Protein function: JanA and janB regulate somatic sex differentiation.
Reference sequence:
MKMFKSLSLIPRIVSPFQKCYSTDLISLVGVPRVKITKGQNRYLLVNIHTHGFTKYGRVIVRGADVDNHLAIFDSILEELEPEGICAKILGGGRILNEPDNKKIKIYGTSRTFGGADHTRTRNILQAWTTYKDFKITVKQ
UniProt ID: Q9BM95
Variant: N -> S at position 27-27
Variant annotation: in strain: kenya_2
Protein function: JanA and janB regulate somatic sex differentiation.
Reference sequence:
MKMFKSLSLIPRIVSPFQKCYSTDLINLVGVPRVKITKGQNRYLLVNIHTHGFTKYGRVIVRGADVDNHLAIFDSILEELEPEGICAKILGGGRILNEPDNKKIKIYGTSRTFGGADHTRTRNILQAWTTYKDFKITVKQ
UniProt ID: Q9BM95
Variant: I -> V at position 72-72
Variant annotation: in strain: kenya_2
Protein function: JanA and janB regulate somatic sex differentiation.
Reference sequence:
MKMFKSLSLIPRIVSPFQKCYSTDLINLVGVPRVKITKGQNRYLLVNIHTHGFTKYGRVIVRGADVDNHLAIFDSILEELEPEGICAKILGGGRILNEPDNKKIKIYGTSRTFGGADHTRTRNILQAWTTYKDFKITVKQ