sujigwak/NVAR huggingface dataset:
UniProt ID: O19058
Variant: R -> G at position 162-162
Variant annotation: in allele B
Protein function: Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to both the subterminal N-acetyl glucosamine (GlcNAc) of type 1 chain (beta-D-Gal-(1->3)-beta-D-GlcNAc) glycolipids and oligosaccharides via an alpha(1,4) linkage, and the subterminal glucose (Glc) or GlcNAc of type 2 chain (beta-D-Gal-(1->4)-beta-D-GlcNAc) oligosaccharides via an alpha(1,3) linkage, independently of the presence of terminal alpha-L-fucosyl-(1,2) moieties on the terminal galactose of these acceptors and participates in the blood groups Lewis determination and expression of Lewis a (Le(a)), lewis b (Le(b)), Lewis x/SSEA-1 (Le(x)) and lewis y (Le(y)) antigens. Also catalyzes the transfer of L-fucose to subterminal GlcNAc of sialyl- and disialyl-lactotetraosylceramide to produce sialyl Lewis a (sLe(a)) and disialyl Lewis a via an alpha(1,4) linkage and therefore may regulate cell surface sialyl Lewis a expression and consequently regulates adhesive properties to E-selectin, cell proliferation and migration. Catalyzes the transfer of an L-fucose to 3'-sialyl-N-acetyllactosamine by an alpha(1,3) linkage, which allows the formation of sialyl-Lewis x structure and therefore may regulate the sialyl-Lewis x surface antigen expression and consequently adhesive properties to E-selectin. Prefers type 1 chain over type 2 acceptors. Type 1 tetrasaccharide is a better acceptor than type 1 disaccharide suggesting that a beta anomeric configuration of GlcNAc in the substrate is preferred. Lewis-positive (Le(+)) individuals have an active enzyme while Lewis-negative (Le(-)) individuals have an inactive enzyme.
Reference sequence:
MDPLGAAKPQWPWRRCLAALLFQLLVAVCFFSYLRVSRDDATGSPRPGLMAVEPVTGAPSGSSRQDTTPTRPTLLILLWTWPFHIPVALSRCSEMVPGAADCHITADRKVYPQADAVIVHHWDIMYNPKSRLPPSPRPQGQRWIWFNLEPPPNCQHLEALDRYFNLTMSYRSDSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWKLDSARVRYYQSLQAHLKVDVYGRSHKPLPKGTMMETLSRYKFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFRWRETLRPRSFSWALDFCKACWKLQQESRYQTMRSIAAWFT
UniProt ID: O19058
Variant: V -> M at position 304-304
Variant annotation: in allele B
Protein function: Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to both the subterminal N-acetyl glucosamine (GlcNAc) of type 1 chain (beta-D-Gal-(1->3)-beta-D-GlcNAc) glycolipids and oligosaccharides via an alpha(1,4) linkage, and the subterminal glucose (Glc) or GlcNAc of type 2 chain (beta-D-Gal-(1->4)-beta-D-GlcNAc) oligosaccharides via an alpha(1,3) linkage, independently of the presence of terminal alpha-L-fucosyl-(1,2) moieties on the terminal galactose of these acceptors and participates in the blood groups Lewis determination and expression of Lewis a (Le(a)), lewis b (Le(b)), Lewis x/SSEA-1 (Le(x)) and lewis y (Le(y)) antigens. Also catalyzes the transfer of L-fucose to subterminal GlcNAc of sialyl- and disialyl-lactotetraosylceramide to produce sialyl Lewis a (sLe(a)) and disialyl Lewis a via an alpha(1,4) linkage and therefore may regulate cell surface sialyl Lewis a expression and consequently regulates adhesive properties to E-selectin, cell proliferation and migration. Catalyzes the transfer of an L-fucose to 3'-sialyl-N-acetyllactosamine by an alpha(1,3) linkage, which allows the formation of sialyl-Lewis x structure and therefore may regulate the sialyl-Lewis x surface antigen expression and consequently adhesive properties to E-selectin. Prefers type 1 chain over type 2 acceptors. Type 1 tetrasaccharide is a better acceptor than type 1 disaccharide suggesting that a beta anomeric configuration of GlcNAc in the substrate is preferred. Lewis-positive (Le(+)) individuals have an active enzyme while Lewis-negative (Le(-)) individuals have an inactive enzyme.
Reference sequence:
MDPLGAAKPQWPWRRCLAALLFQLLVAVCFFSYLRVSRDDATGSPRPGLMAVEPVTGAPSGSSRQDTTPTRPTLLILLWTWPFHIPVALSRCSEMVPGAADCHITADRKVYPQADAVIVHHWDIMYNPKSRLPPSPRPQGQRWIWFNLEPPPNCQHLEALDRYFNLTMSYRSDSDIFTPYGWLEPWSGQPAHPPLNLSAKTELVAWAVSNWKLDSARVRYYQSLQAHLKVDVYGRSHKPLPKGTMMETLSRYKFYLAFENSLHPDYITEKLWRNALEAWAVPVVLGPSRSNYERFLPPDAFIHVDDFQSPKDLARYLQELDKDHARYLSYFRWRETLRPRSFSWALDFCKACWKLQQESRYQTMRSIAAWFT
UniProt ID: O19110
Variant: Y -> L at position 306-306
Protein function: May be involved in sperm differentiation and proliferation.
Reference sequence:
MSRPFASAPARGHRQGQEERERRSEEGGSVPGPRTFQVVSPVVTPGQEATLFRVEAVEEGEARHEGDVAGIGREFQLLAEDIVEEVEVVADEEQEQRPSQELEEKTVEEQGQERPGGPCERQELDALQALAALQVELSSEREQNRRAYVQFMRKNHQRRKRHLARRSTIIQGIPGFWAKAIMSHPQVSVLISDQDQDFLGYMMDLKVQVRSHPPSRCKLIFSFRDNPYFLNSVIIKEYYLDITGYRARRSTPVHWFWDFERGAPSRRRDTRSLNFLNWLSGHNGPESNRIAEIISEDVWDDPLKYYLREEGSSVRDN
UniProt ID: O19110
Variant: V -> M at position 314-314
Protein function: May be involved in sperm differentiation and proliferation.
Reference sequence:
MSRPFASAPARGHRQGQEERERRSEEGGSVPGPRTFQVVSPVVTPGQEATLFRVEAVEEGEARHEGDVAGIGREFQLLAEDIVEEVEVVADEEQEQRPSQELEEKTVEEQGQERPGGPCERQELDALQALAALQVELSSEREQNRRAYVQFMRKNHQRRKRHLARRSTIIQGIPGFWAKAIMSHPQVSVLISDQDQDFLGYMMDLKVQVRSHPPSRCKLIFSFRDNPYFLNSVIIKEYYLDITGYRARRSTPVHWFWDFERGAPSRRRDTRSLNFLNWLSGHNGPESNRIAEIISEDVWDDPLKYYLREEGSSVRDN
UniProt ID: O19133
Variant: M -> I at position 121-121
Variant annotation: in GSD-Ia
Protein function: Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production in the terminal step of glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.
Reference sequence:
MEKGMDVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLREAVGIKLLWVAVIGDWLNLVFKWILFGQRPYWWVMDTDYYSNTSVPLIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFRGRKRPTYRFRCLNILLWLGFWAVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFRHIQSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEKARRWCERPEWVHIDTTPFASLLKNVGTLFGLGVTLNSSMYRESCKGKLSKWFPFRLSCIVVSLILLHLFDSLKPPSQTELIFYTLSFCKSAAVPLASVSLIPYCLARVFDQPDKKSL
UniProt ID: O20549
Variant: W -> L at position 175-175
Variant annotation: in strain: Isolate JLP 16556
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:
MTNMRKSHPLIKIVNHSFIDLPAPSNISAWWNFGSLLGVCLGLQILTGLFLAMHYTADTTTAFSSVTHICRDVNYGWLIRYMHANGASMFFIFLYFHIGRGIYYGSYSFMDTWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGPTLVEWIWGGFSVDKATWTRFFAFHFILPCIITAMVMIHLLFLHETGSNNPSGMNSDSDKIPFHPYYTIKDILGVLFMMITLVSLVMFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVFSILILVLFPILHSSKQRSMSFRPLSQCLMWMLVANLLVLTWIGGQPVEHPFITIGQVASVTYFFTILILMPSTALMENKLLKW
UniProt ID: O20549
Variant: C -> F at position 187-187
Variant annotation: in strain: Isolate JLP 16556
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:
MTNMRKSHPLIKIVNHSFIDLPAPSNISAWWNFGSLLGVCLGLQILTGLFLAMHYTADTTTAFSSVTHICRDVNYGWLIRYMHANGASMFFIFLYFHIGRGIYYGSYSFMDTWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGPTLVEWIWGGFSVDKATWTRFFAFHFILPCIITAMVMIHLLFLHETGSNNPSGMNSDSDKIPFHPYYTIKDILGVLFMMITLVSLVMFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVFSILILVLFPILHSSKQRSMSFRPLSQCLMWMLVANLLVLTWIGGQPVEHPFITIGQVASVTYFFTILILMPSTALMENKLLKW
UniProt ID: O20549
Variant: V -> M at position 240-240
Variant annotation: in strain: Isolate JLP 16556
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:
MTNMRKSHPLIKIVNHSFIDLPAPSNISAWWNFGSLLGVCLGLQILTGLFLAMHYTADTTTAFSSVTHICRDVNYGWLIRYMHANGASMFFIFLYFHIGRGIYYGSYSFMDTWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGPTLVEWIWGGFSVDKATWTRFFAFHFILPCIITAMVMIHLLFLHETGSNNPSGMNSDSDKIPFHPYYTIKDILGVLFMMITLVSLVMFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVFSILILVLFPILHSSKQRSMSFRPLSQCLMWMLVANLLVLTWIGGQPVEHPFITIGQVASVTYFFTILILMPSTALMENKLLKW
UniProt ID: O20549
Variant: S -> T at position 246-246
Variant annotation: in strain: Isolate JLP 16556
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:
MTNMRKSHPLIKIVNHSFIDLPAPSNISAWWNFGSLLGVCLGLQILTGLFLAMHYTADTTTAFSSVTHICRDVNYGWLIRYMHANGASMFFIFLYFHIGRGIYYGSYSFMDTWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGPTLVEWIWGGFSVDKATWTRFFAFHFILPCIITAMVMIHLLFLHETGSNNPSGMNSDSDKIPFHPYYTIKDILGVLFMMITLVSLVMFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVFSILILVLFPILHSSKQRSMSFRPLSQCLMWMLVANLLVLTWIGGQPVEHPFITIGQVASVTYFFTILILMPSTALMENKLLKW
UniProt ID: O20549
Variant: V -> M at position 302-302
Variant annotation: in strain: Isolate JLP 16556
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:
MTNMRKSHPLIKIVNHSFIDLPAPSNISAWWNFGSLLGVCLGLQILTGLFLAMHYTADTTTAFSSVTHICRDVNYGWLIRYMHANGASMFFIFLYFHIGRGIYYGSYSFMDTWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGPTLVEWIWGGFSVDKATWTRFFAFHFILPCIITAMVMIHLLFLHETGSNNPSGMNSDSDKIPFHPYYTIKDILGVLFMMITLVSLVMFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVFSILILVLFPILHSSKQRSMSFRPLSQCLMWMLVANLLVLTWIGGQPVEHPFITIGQVASVTYFFTILILMPSTALMENKLLKW
UniProt ID: O20549
Variant: V -> I at position 334-334
Variant annotation: in strain: Isolate JLP 16556
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:
MTNMRKSHPLIKIVNHSFIDLPAPSNISAWWNFGSLLGVCLGLQILTGLFLAMHYTADTTTAFSSVTHICRDVNYGWLIRYMHANGASMFFIFLYFHIGRGIYYGSYSFMDTWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGPTLVEWIWGGFSVDKATWTRFFAFHFILPCIITAMVMIHLLFLHETGSNNPSGMNSDSDKIPFHPYYTIKDILGVLFMMITLVSLVMFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVFSILILVLFPILHSSKQRSMSFRPLSQCLMWMLVANLLVLTWIGGQPVEHPFITIGQVASVTYFFTILILMPSTALMENKLLKW
UniProt ID: O20549
Variant: V -> L at position 353-353
Variant annotation: in strain: Isolate JLP 16556
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:
MTNMRKSHPLIKIVNHSFIDLPAPSNISAWWNFGSLLGVCLGLQILTGLFLAMHYTADTTTAFSSVTHICRDVNYGWLIRYMHANGASMFFIFLYFHIGRGIYYGSYSFMDTWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGPTLVEWIWGGFSVDKATWTRFFAFHFILPCIITAMVMIHLLFLHETGSNNPSGMNSDSDKIPFHPYYTIKDILGVLFMMITLVSLVMFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVFSILILVLFPILHSSKQRSMSFRPLSQCLMWMLVANLLVLTWIGGQPVEHPFITIGQVASVTYFFTILILMPSTALMENKLLKW
UniProt ID: O21217
Variant: T -> A at position 23-23
Variant annotation: in strain: Isolate Macedonia
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:
MTNIRKTHPLIKIVNDSFIDLPTPSNISAWWNFGSLLGICLALQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWVLRYLHANGASMFFICLYLHVGRGLYYGSYLFKETWNMGVILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYVGTDLVEWIWGGFSVDKATLTRFFAFHFLLPFIISALVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLFTMILVLLSLVLFSPDMLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILVIIPFLHTSKQRSMTFRPLSQCLFWLLTADLLTLTWIGGQPVEHPYVIIGQLASILYFLIIIVIMPLVGLVENHLLKW
UniProt ID: O21217
Variant: V -> I at position 156-156
Variant annotation: in strain: Isolate Macedonia
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:
MTNIRKTHPLIKIVNDSFIDLPTPSNISAWWNFGSLLGICLALQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWVLRYLHANGASMFFICLYLHVGRGLYYGSYLFKETWNMGVILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYVGTDLVEWIWGGFSVDKATLTRFFAFHFLLPFIISALVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLFTMILVLLSLVLFSPDMLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILVIIPFLHTSKQRSMTFRPLSQCLFWLLTADLLTLTWIGGQPVEHPYVIIGQLASILYFLIIIVIMPLVGLVENHLLKW
UniProt ID: O21217
Variant: M -> A at position 215-215
Variant annotation: in strain: Isolate Macedonia
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:
MTNIRKTHPLIKIVNDSFIDLPTPSNISAWWNFGSLLGICLALQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWVLRYLHANGASMFFICLYLHVGRGLYYGSYLFKETWNMGVILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYVGTDLVEWIWGGFSVDKATLTRFFAFHFLLPFIISALVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLFTMILVLLSLVLFSPDMLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILVIIPFLHTSKQRSMTFRPLSQCLFWLLTADLLTLTWIGGQPVEHPYVIIGQLASILYFLIIIVIMPLVGLVENHLLKW
UniProt ID: O21217
Variant: T -> M at position 234-234
Variant annotation: in strain: Isolate Macedonia
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:
MTNIRKTHPLIKIVNDSFIDLPTPSNISAWWNFGSLLGICLALQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWVLRYLHANGASMFFICLYLHVGRGLYYGSYLFKETWNMGVILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYVGTDLVEWIWGGFSVDKATLTRFFAFHFLLPFIISALVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLFTMILVLLSLVLFSPDMLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILVIIPFLHTSKQRSMTFRPLSQCLFWLLTADLLTLTWIGGQPVEHPYVIIGQLASILYFLIIIVIMPLVGLVENHLLKW
UniProt ID: O21217
Variant: V -> M at position 372-372
Variant annotation: in strain: Isolate Macedonia
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:
MTNIRKTHPLIKIVNDSFIDLPTPSNISAWWNFGSLLGICLALQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWVLRYLHANGASMFFICLYLHVGRGLYYGSYLFKETWNMGVILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYVGTDLVEWIWGGFSVDKATLTRFFAFHFLLPFIISALVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLFTMILVLLSLVLFSPDMLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILVIIPFLHTSKQRSMTFRPLSQCLFWLLTADLLTLTWIGGQPVEHPYVIIGQLASILYFLIIIVIMPLVGLVENHLLKW
UniProt ID: O21223
Variant: N -> S at position 16-16
Variant annotation: in clade 1A and clade 1B
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:
MTNIRKSHPLIKIINNSFIDLPAPSNISAWWNFGSLLGICLGLQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWVLRYLHANGASMFFICLYLHVGRGLYYGSYLFKETWNMGVILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFLLPFIISALVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLFMMILVLLSLVLFSPDMLGDPDNYMPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILVIIPFLHTSKQRSMTFRPLSQCLFWLLTADLLTLTWIGGQPVEHPYVIIGQLASILYFLIIIVIMPLTSLMENHLLKW
UniProt ID: O21223
Variant: L -> M at position 82-82
Variant annotation: in clade 1B
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:
MTNIRKSHPLIKIINNSFIDLPAPSNISAWWNFGSLLGICLGLQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWVLRYLHANGASMFFICLYLHVGRGLYYGSYLFKETWNMGVILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFLLPFIISALVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLFMMILVLLSLVLFSPDMLGDPDNYMPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILVIIPFLHTSKQRSMTFRPLSQCLFWLLTADLLTLTWIGGQPVEHPYVIIGQLASILYFLIIIVIMPLTSLMENHLLKW
UniProt ID: O21223
Variant: T -> A at position 329-329
Variant annotation: in clade 1A and clade 1B
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:
MTNIRKSHPLIKIINNSFIDLPAPSNISAWWNFGSLLGICLGLQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWVLRYLHANGASMFFICLYLHVGRGLYYGSYLFKETWNMGVILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFLLPFIISALVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLFMMILVLLSLVLFSPDMLGDPDNYMPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILVIIPFLHTSKQRSMTFRPLSQCLFWLLTADLLTLTWIGGQPVEHPYVIIGQLASILYFLIIIVIMPLTSLMENHLLKW
UniProt ID: O21298
Variant: V -> A at position 78-78
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:
MTNIRKSHPLFKIINDSFVDLPAPSSISSWWNFGSLLGICLAIQILTGLFLAMHYTSDTATAFHSVTHICRDVNYGWVLRYLHANGASMFFICLFLHVGRGIYYGSYTFSETWNIGIILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYVGTTLVEWVWGGFSVDKATLTRFFALHFLLPFIIAAMVMVHLLFLHETGSNNPTGIPSDADMIPFHPYYTIKDILGLVLMLMALLSLVLFAPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVVALVLSILILAAIPLLHTSKQRSMAFRPLSQCLFWLLVADLLTLTWIGGQPVEHPFIIIGQLASILYFLIILVLMPLASIAENHLLKW
UniProt ID: O21298
Variant: I -> T at position 117-117
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:
MTNIRKSHPLFKIINDSFVDLPAPSSISSWWNFGSLLGICLAIQILTGLFLAMHYTSDTATAFHSVTHICRDVNYGWVLRYLHANGASMFFICLFLHVGRGIYYGSYTFSETWNIGIILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYVGTTLVEWVWGGFSVDKATLTRFFALHFLLPFIIAAMVMVHLLFLHETGSNNPTGIPSDADMIPFHPYYTIKDILGLVLMLMALLSLVLFAPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVVALVLSILILAAIPLLHTSKQRSMAFRPLSQCLFWLLVADLLTLTWIGGQPVEHPFIIIGQLASILYFLIILVLMPLASIAENHLLKW
UniProt ID: O21798
Variant: P -> S at position 94-94
Variant annotation: in strain: Isolate A-292
Protein function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Essential for the catalytic activity and assembly of complex I.
Reference sequence:
MNPLAQPIIYSTIFTGTLITALSSHWFFTWVGLEMNMLAFIPILTKKMSPRSTEAATKYFLTQATASMILLMAILSNSMLSGQWTMTNTTNQYPSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLMSGLLLLTWQKLAPISIMYQISSSLNVNLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWVIIEEFTKNNSLIIPTIMAIITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLITLTTLLLPISPFMLMIL
UniProt ID: O21804
Variant: I -> V at position 98-98
Variant annotation: in strain: Isolate 94SAK2
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:
MTNLRKTHPLMKIVNSSFIDLPAPSNISSWWNFGSLLGVCLIIQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYLHANGASMFFICLFLHIGRGLYYGSYMYLETWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGSDLVEWIWGGFSVDKATLTRFFAFHFILPFIIAALAGVHLLFLHETGSNNPSGLSSDADKIPFHPYYTIKDILGVLLLILVLMSLVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALALSILVLAVVPFLHTSKQRSMMFRPFSQCLFWILVADLLTLTWIGGQPVEHPFVIIGQLASILYFLLILVIMPITSLFENNLLKW
UniProt ID: O22347
Variant: T -> I at position 239-239
Variant annotation: in R biotype
Protein function: Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.
Reference sequence:
MRECISIHIGQAGIQVGNACWELYCLEHGIQADGQMPGDKTIGGGDDAFNTFFSETGAGKHVPRAVFVDLEPTVIDEVRTGTYRQLFHPEQLISGKEDAANNFARGHYTIGKEIVDLCLDRIRKLADNCTGLQGFLVFNAVGGGTGSGLGSLLLERLSVDYGKKSKLGFTVYPSPQVSTSVVEPYNSVLSTHSLLEHTDVAVLLDNEAIYDICRRSLDIERPTYTNLNRLVSQVISSLTASLRFDGALNVDVNEFQTNLVPYPRIHFMLSSYAPVISAEKAYHEQLSVAEITNSAFEPSSMMAKCDPRHGKYMACCLMYRGDVVPKDVNAAVATIKTKRTIQFVDWCPTGFKCGINYQPPSVVPGGDLAKVQRAVCMISNSTSVVEVFSRIDHKFDLMYAKRAFVHWYVGEGMEEGEFSEAREDLAALEKDYEEVGAEFDEGEEGDEGDEY
UniProt ID: O22347
Variant: M -> T at position 268-268
Variant annotation: in I biotype
Protein function: Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.
Reference sequence:
MRECISIHIGQAGIQVGNACWELYCLEHGIQADGQMPGDKTIGGGDDAFNTFFSETGAGKHVPRAVFVDLEPTVIDEVRTGTYRQLFHPEQLISGKEDAANNFARGHYTIGKEIVDLCLDRIRKLADNCTGLQGFLVFNAVGGGTGSGLGSLLLERLSVDYGKKSKLGFTVYPSPQVSTSVVEPYNSVLSTHSLLEHTDVAVLLDNEAIYDICRRSLDIERPTYTNLNRLVSQVISSLTASLRFDGALNVDVNEFQTNLVPYPRIHFMLSSYAPVISAEKAYHEQLSVAEITNSAFEPSSMMAKCDPRHGKYMACCLMYRGDVVPKDVNAAVATIKTKRTIQFVDWCPTGFKCGINYQPPSVVPGGDLAKVQRAVCMISNSTSVVEVFSRIDHKFDLMYAKRAFVHWYVGEGMEEGEFSEAREDLAALEKDYEEVGAEFDEGEEGDEGDEY