sujigwak/NVAR huggingface dataset:
UniProt ID: P00100
Variant: Q -> P at position 65-65
Variant annotation: in strain: 181, 217 and 204
Protein function: This is a prokaryotic monoheme cytochrome, unreactive with mitochondrial cytochrome C oxidase or reductase. It functions in nitrite and nitrate respiration in Pseudomonas, but it is also found in other bacteria.
Reference sequence:
EDGAALFKSKPCAACHTIDSKMVGPALKEVAAKNAGVKDADKTLAGHIKNGTQGNWGPIPMPPNQVTDAEALTLAQWVLSLK
UniProt ID: P00100
Variant: E -> Q at position 70-70
Variant annotation: in strain: 191
Protein function: This is a prokaryotic monoheme cytochrome, unreactive with mitochondrial cytochrome C oxidase or reductase. It functions in nitrite and nitrate respiration in Pseudomonas, but it is also found in other bacteria.
Reference sequence:
EDGAALFKSKPCAACHTIDSKMVGPALKEVAAKNAGVKDADKTLAGHIKNGTQGNWGPIPMPPNQVTDAEALTLAQWVLSLK
UniProt ID: P00101
Variant: V -> I at position 40-40
Variant annotation: in strain: 221
Protein function: Electron donor for cytochrome cd1 in nitrite and nitrate respiration.
Reference sequence:
MKKILIPMLALGGALAMQPALAQDGEALFKSKPCAACHSVDTKMVGPALKEVAAKNAGVEGAADTLALHIKNGSQGVWGPIPMPPNPVTEEEAKILAEWVLSLK
UniProt ID: P00101
Variant: T -> A at position 42-42
Variant annotation: in strain: 221
Protein function: Electron donor for cytochrome cd1 in nitrite and nitrate respiration.
Reference sequence:
MKKILIPMLALGGALAMQPALAQDGEALFKSKPCAACHSVDTKMVGPALKEVAAKNAGVEGAADTLALHIKNGSQGVWGPIPMPPNPVTEEEAKILAEWVLSLK
UniProt ID: P00101
Variant: M -> L at position 44-44
Variant annotation: in strain: 221
Protein function: Electron donor for cytochrome cd1 in nitrite and nitrate respiration.
Reference sequence:
MKKILIPMLALGGALAMQPALAQDGEALFKSKPCAACHSVDTKMVGPALKEVAAKNAGVEGAADTLALHIKNGSQGVWGPIPMPPNPVTEEEAKILAEWVLSLK
UniProt ID: P00101
Variant: L -> F at position 49-49
Variant annotation: in strain: 221
Protein function: Electron donor for cytochrome cd1 in nitrite and nitrate respiration.
Reference sequence:
MKKILIPMLALGGALAMQPALAQDGEALFKSKPCAACHSVDTKMVGPALKEVAAKNAGVEGAADTLALHIKNGSQGVWGPIPMPPNPVTEEEAKILAEWVLSLK
UniProt ID: P00101
Variant: N -> Y at position 56-56
Variant annotation: in strain: 221
Protein function: Electron donor for cytochrome cd1 in nitrite and nitrate respiration.
Reference sequence:
MKKILIPMLALGGALAMQPALAQDGEALFKSKPCAACHSVDTKMVGPALKEVAAKNAGVEGAADTLALHIKNGSQGVWGPIPMPPNPVTEEEAKILAEWVLSLK
UniProt ID: P00101
Variant: VE -> QD at position 59-60
Variant annotation: in strain: 221
Protein function: Electron donor for cytochrome cd1 in nitrite and nitrate respiration.
Reference sequence:
MKKILIPMLALGGALAMQPALAQDGEALFKSKPCAACHSVDTKMVGPALKEVAAKNAGVEGAADTLALHIKNGSQGVWGPIPMPPNPVTEEEAKILAEWVLSLK
UniProt ID: P00101
Variant: T -> L at position 65-65
Variant annotation: in strain: 221
Protein function: Electron donor for cytochrome cd1 in nitrite and nitrate respiration.
Reference sequence:
MKKILIPMLALGGALAMQPALAQDGEALFKSKPCAACHSVDTKMVGPALKEVAAKNAGVEGAADTLALHIKNGSQGVWGPIPMPPNPVTEEEAKILAEWVLSLK
UniProt ID: P00101
Variant: L -> G at position 68-68
Variant annotation: in strain: 221
Protein function: Electron donor for cytochrome cd1 in nitrite and nitrate respiration.
Reference sequence:
MKKILIPMLALGGALAMQPALAQDGEALFKSKPCAACHSVDTKMVGPALKEVAAKNAGVEGAADTLALHIKNGSQGVWGPIPMPPNPVTEEEAKILAEWVLSLK
UniProt ID: P00101
Variant: V -> I at position 100-100
Variant annotation: in strain: 221
Protein function: Electron donor for cytochrome cd1 in nitrite and nitrate respiration.
Reference sequence:
MKKILIPMLALGGALAMQPALAQDGEALFKSKPCAACHSVDTKMVGPALKEVAAKNAGVEGAADTLALHIKNGSQGVWGPIPMPPNPVTEEEAKILAEWVLSLK
UniProt ID: P00101
Variant: L -> Q at position 103-103
Variant annotation: in strain: 221
Protein function: Electron donor for cytochrome cd1 in nitrite and nitrate respiration.
Reference sequence:
MKKILIPMLALGGALAMQPALAQDGEALFKSKPCAACHSVDTKMVGPALKEVAAKNAGVEGAADTLALHIKNGSQGVWGPIPMPPNPVTEEEAKILAEWVLSLK
UniProt ID: P00147
Variant: K -> G at position 19-19
Variant annotation: in strain: M110 and St Louis
Protein function: Cytochrome c' is the most widely occurring bacterial c-type cytochrome. Cytochromes c' are high-spin proteins and the heme has no sixth ligand. Their exact function is not known.
Reference sequence:
ADTKEVLEAREAYFKSLGKSMKAMTGVAKSFDAEAAKAEAAALEKILATDVAPLFPAGTSSTDLPGQTEAKAAIWTNMADFGAKGKAMNDAGAEVIAAANAGDATAFGAALQKLGGTCKACHDDYREED
UniProt ID: P00147
Variant: S -> A at position 30-30
Variant annotation: in strain: M110 and St Louis
Protein function: Cytochrome c' is the most widely occurring bacterial c-type cytochrome. Cytochromes c' are high-spin proteins and the heme has no sixth ligand. Their exact function is not known.
Reference sequence:
ADTKEVLEAREAYFKSLGKSMKAMTGVAKSFDAEAAKAEAAALEKILATDVAPLFPAGTSSTDLPGQTEAKAAIWTNMADFGAKGKAMNDAGAEVIAAANAGDATAFGAALQKLGGTCKACHDDYREED
UniProt ID: P00147
Variant: A -> V at position 38-38
Variant annotation: in strain: M110 and St Louis
Protein function: Cytochrome c' is the most widely occurring bacterial c-type cytochrome. Cytochromes c' are high-spin proteins and the heme has no sixth ligand. Their exact function is not known.
Reference sequence:
ADTKEVLEAREAYFKSLGKSMKAMTGVAKSFDAEAAKAEAAALEKILATDVAPLFPAGTSSTDLPGQTEAKAAIWTNMADFGAKGKAMNDAGAEVIAAANAGDATAFGAALQKLGGTCKACHDDYREED
UniProt ID: P00147
Variant: A -> K at position 42-42
Variant annotation: in strain: M110 and St Louis
Protein function: Cytochrome c' is the most widely occurring bacterial c-type cytochrome. Cytochromes c' are high-spin proteins and the heme has no sixth ligand. Their exact function is not known.
Reference sequence:
ADTKEVLEAREAYFKSLGKSMKAMTGVAKSFDAEAAKAEAAALEKILATDVAPLFPAGTSSTDLPGQTEAKAAIWTNMADFGAKGKAMNDAGAEVIAAANAGDATAFGAALQKLGGTCKACHDDYREED
UniProt ID: P00147
Variant: T -> A at position 76-76
Variant annotation: in strain: M110 and St Louis
Protein function: Cytochrome c' is the most widely occurring bacterial c-type cytochrome. Cytochromes c' are high-spin proteins and the heme has no sixth ligand. Their exact function is not known.
Reference sequence:
ADTKEVLEAREAYFKSLGKSMKAMTGVAKSFDAEAAKAEAAALEKILATDVAPLFPAGTSSTDLPGQTEAKAAIWTNMADFGAKGKAMNDAGAEVIAAANAGDATAFGAALQKLGGTCKACHDDYREED
UniProt ID: P00147
Variant: A -> D at position 79-79
Variant annotation: in strain: M110 and St Louis
Protein function: Cytochrome c' is the most widely occurring bacterial c-type cytochrome. Cytochromes c' are high-spin proteins and the heme has no sixth ligand. Their exact function is not known.
Reference sequence:
ADTKEVLEAREAYFKSLGKSMKAMTGVAKSFDAEAAKAEAAALEKILATDVAPLFPAGTSSTDLPGQTEAKAAIWTNMADFGAKGKAMNDAGAEVIAAANAGDATAFGAALQKLGGTCKACHDDYREED
UniProt ID: P00147
Variant: N -> H at position 89-89
Variant annotation: in strain: M110 and St Louis
Protein function: Cytochrome c' is the most widely occurring bacterial c-type cytochrome. Cytochromes c' are high-spin proteins and the heme has no sixth ligand. Their exact function is not known.
Reference sequence:
ADTKEVLEAREAYFKSLGKSMKAMTGVAKSFDAEAAKAEAAALEKILATDVAPLFPAGTSSTDLPGQTEAKAAIWTNMADFGAKGKAMNDAGAEVIAAANAGDATAFGAALQKLGGTCKACHDDYREED
UniProt ID: P00147
Variant: D -> E at position 90-90
Variant annotation: in strain: M110
Protein function: Cytochrome c' is the most widely occurring bacterial c-type cytochrome. Cytochromes c' are high-spin proteins and the heme has no sixth ligand. Their exact function is not known.
Reference sequence:
ADTKEVLEAREAYFKSLGKSMKAMTGVAKSFDAEAAKAEAAALEKILATDVAPLFPAGTSSTDLPGQTEAKAAIWTNMADFGAKGKAMNDAGAEVIAAANAGDATAFGAALQKLGGTCKACHDDYREED
UniProt ID: P00147
Variant: AE -> GA at position 93-94
Variant annotation: in strain: M110 and St Louis
Protein function: Cytochrome c' is the most widely occurring bacterial c-type cytochrome. Cytochromes c' are high-spin proteins and the heme has no sixth ligand. Their exact function is not known.
Reference sequence:
ADTKEVLEAREAYFKSLGKSMKAMTGVAKSFDAEAAKAEAAALEKILATDVAPLFPAGTSSTDLPGQTEAKAAIWTNMADFGAKGKAMNDAGAEVIAAANAGDATAFGAALQKLGGTCKACHDDYREED
UniProt ID: P00147
Variant: AT -> GA at position 104-105
Variant annotation: in strain: M110 and St Louis
Protein function: Cytochrome c' is the most widely occurring bacterial c-type cytochrome. Cytochromes c' are high-spin proteins and the heme has no sixth ligand. Their exact function is not known.
Reference sequence:
ADTKEVLEAREAYFKSLGKSMKAMTGVAKSFDAEAAKAEAAALEKILATDVAPLFPAGTSSTDLPGQTEAKAAIWTNMADFGAKGKAMNDAGAEVIAAANAGDATAFGAALQKLGGTCKACHDDYREED
UniProt ID: P00156
Variant: T -> I at position 7-7
Variant annotation: in dbSNP:rs193302980
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: N -> S at position 8-8
Variant annotation: in dbSNP:rs28357679
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: F -> L at position 18-18
Variant annotation: in dbSNP:rs28357681
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: G -> S at position 34-34
Variant annotation: in mitochondrial myopathy; sporadic; dbSNP:rs207459998
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: S -> P at position 35-35
Variant annotation: in exercice intolerance; with cardiomyopathy and septo-optic dysplasia; dbSNP:rs207460004
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: A -> T at position 39-39
Variant annotation: in dbSNP:rs2853505
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: A -> V at position 39-39
Variant annotation: in dbSNP:rs1603224933
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: I -> T at position 78-78
Variant annotation: in dbSNP:rs200786872
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: I -> V at position 78-78
Variant annotation: in dbSNP:rs199997767
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: R -> H at position 80-80
Variant annotation: in colorectal cancer; dbSNP:rs207459995
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: A -> P at position 87-87
Variant annotation: in dbSNP:rs1603225017
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: A -> T at position 122-122
Variant annotation: in dbSNP:rs28357685
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: T -> A at position 123-123
Variant annotation: in dbSNP:rs1603225089
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: S -> P at position 151-151
Variant annotation: in exercise intolerance; dbSNP:rs207460001
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: I -> T at position 153-153
Variant annotation: in dbSNP:rs28357687
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: I -> V at position 164-164
Variant annotation: in dbSNP:rs386829239
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: G -> E at position 166-166
Variant annotation: in hyperthrophic cardiomyopathy; dbSNP:rs1603225167
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA
UniProt ID: P00156
Variant: D -> N at position 171-171
Variant annotation: in LHON; uncertain significance; secondary mutation; dbSNP:rs41518645
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:
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA