sujigwak/NVAR huggingface dataset:
UniProt ID: Q95723
Variant: P -> Q at position 322-322
Variant annotation: in strain: Isolate TK 11240
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:
MTNIRKTHPLLKIINSSFVDLPAPSSLSTWWNFGSLLGVCLGVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWLLRYLHANGASMFFICLYLHVGRGLYYGSYMYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIVTALVMVHLLFLHETGSNNPTGIPSDPDMIPFHPYYTIKDILGFLIMLTALATLVLFSPDLLGDPDNYIPANPSITPPHIKPEWYFLFAYAILRSIPNKLGGVLALVMSILILAIVPILHTSKQRSMMFRPLSPCLFWLLVAVLFTLTWIGGQPVEHPYIIIGQTASVLYFLIILLLMPMISMVENYLLKW
UniProt ID: Q95741
Variant: T -> P at position 176-176
Variant annotation: in strain: Isolate TK 17308
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:
MTNIRKTHPLLKIINSSFVDLPAPSSLSSWWNFGSLLGVCLGVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWLLRYLHANGASMFFICLYLHVGRGLYYGSYTYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIVTALVMVHLPFLHETGSNNPTGIPSDPDMIHSHPYYTIKDILGFLVMLTALASLVLFSPDLLGDPDNYIPANPLITPPHIKPEWYFLFAYAILRSIPNKLGGVLALVMSILILAIVPILHMSKQRSMMFRPLSQCLFWLLVAVLFTLTWIGGQPVEHPYIIIGQTASTLYFLIILFLMPMISLVENYLLKW
UniProt ID: Q95741
Variant: HLP -> LLL at position 196-198
Variant annotation: in strain: Isolate TK 17308
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:
MTNIRKTHPLLKIINSSFVDLPAPSSLSSWWNFGSLLGVCLGVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWLLRYLHANGASMFFICLYLHVGRGLYYGSYTYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIVTALVMVHLPFLHETGSNNPTGIPSDPDMIHSHPYYTIKDILGFLVMLTALASLVLFSPDLLGDPDNYIPANPLITPPHIKPEWYFLFAYAILRSIPNKLGGVLALVMSILILAIVPILHMSKQRSMMFRPLSQCLFWLLVAVLFTLTWIGGQPVEHPYIIIGQTASTLYFLIILFLMPMISLVENYLLKW
UniProt ID: Q95741
Variant: A -> S at position 240-240
Variant annotation: in strain: Isolate TK 17308
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:
MTNIRKTHPLLKIINSSFVDLPAPSSLSSWWNFGSLLGVCLGVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWLLRYLHANGASMFFICLYLHVGRGLYYGSYTYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIVTALVMVHLPFLHETGSNNPTGIPSDPDMIHSHPYYTIKDILGFLVMLTALASLVLFSPDLLGDPDNYIPANPLITPPHIKPEWYFLFAYAILRSIPNKLGGVLALVMSILILAIVPILHMSKQRSMMFRPLSQCLFWLLVAVLFTLTWIGGQPVEHPYIIIGQTASTLYFLIILFLMPMISLVENYLLKW
UniProt ID: Q95741
Variant: T -> P at position 264-264
Variant annotation: in strain: Isolate TK 17308
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:
MTNIRKTHPLLKIINSSFVDLPAPSSLSSWWNFGSLLGVCLGVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWLLRYLHANGASMFFICLYLHVGRGLYYGSYTYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIVTALVMVHLPFLHETGSNNPTGIPSDPDMIHSHPYYTIKDILGFLVMLTALASLVLFSPDLLGDPDNYIPANPLITPPHIKPEWYFLFAYAILRSIPNKLGGVLALVMSILILAIVPILHMSKQRSMMFRPLSQCLFWLLVAVLFTLTWIGGQPVEHPYIIIGQTASTLYFLIILFLMPMISLVENYLLKW
UniProt ID: Q95741
Variant: H -> Y at position 267-267
Variant annotation: in strain: Isolate TK 17308
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:
MTNIRKTHPLLKIINSSFVDLPAPSSLSSWWNFGSLLGVCLGVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWLLRYLHANGASMFFICLYLHVGRGLYYGSYTYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIVTALVMVHLPFLHETGSNNPTGIPSDPDMIHSHPYYTIKDILGFLVMLTALASLVLFSPDLLGDPDNYIPANPLITPPHIKPEWYFLFAYAILRSIPNKLGGVLALVMSILILAIVPILHMSKQRSMMFRPLSQCLFWLLVAVLFTLTWIGGQPVEHPYIIIGQTASTLYFLIILFLMPMISLVENYLLKW
UniProt ID: Q95741
Variant: P -> T at position 270-270
Variant annotation: in strain: Isolate TK 17308
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:
MTNIRKTHPLLKIINSSFVDLPAPSSLSSWWNFGSLLGVCLGVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWLLRYLHANGASMFFICLYLHVGRGLYYGSYTYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIVTALVMVHLPFLHETGSNNPTGIPSDPDMIHSHPYYTIKDILGFLVMLTALASLVLFSPDLLGDPDNYIPANPLITPPHIKPEWYFLFAYAILRSIPNKLGGVLALVMSILILAIVPILHMSKQRSMMFRPLSQCLFWLLVAVLFTLTWIGGQPVEHPYIIIGQTASTLYFLIILFLMPMISLVENYLLKW
UniProt ID: Q95741
Variant: T -> V at position 356-356
Variant annotation: in strain: Isolate TK 17308
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:
MTNIRKTHPLLKIINSSFVDLPAPSSLSSWWNFGSLLGVCLGVQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWLLRYLHANGASMFFICLYLHVGRGLYYGSYTYSETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGFSVDKATLTRFFAFHFLLPFIVTALVMVHLPFLHETGSNNPTGIPSDPDMIHSHPYYTIKDILGFLVMLTALASLVLFSPDLLGDPDNYIPANPLITPPHIKPEWYFLFAYAILRSIPNKLGGVLALVMSILILAIVPILHMSKQRSMMFRPLSQCLFWLLVAVLFTLTWIGGQPVEHPYIIIGQTASTLYFLIILFLMPMISLVENYLLKW
UniProt ID: Q957A7
Variant: I -> V at position 39-39
Variant annotation: in strain: Isolate CMF 960522.46
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:
MTNIRKSHPLMKIINSSFIDLPAPSNISSWWNFGSLLGICLALQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWILRYLHANGASMFFICLYLHVGRGLYYGSYMYTETWNIGIILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFLLPFIISAMVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLLLMITVLLALVLFSPDMLGDPDNYMPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAAIPLLHTSKQRSMSFRPLSQCLFWLLVADLLILTWIGGQPVEHPYVIIGQLASILYFSTIIILMPLTSLLENHLLKW
UniProt ID: Q957A7
Variant: M -> T at position 257-257
Variant annotation: in strain: Isolate CMF 960522.46
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:
MTNIRKSHPLMKIINSSFIDLPAPSNISSWWNFGSLLGICLALQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWILRYLHANGASMFFICLYLHVGRGLYYGSYMYTETWNIGIILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFLLPFIISAMVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLLLMITVLLALVLFSPDMLGDPDNYMPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAAIPLLHTSKQRSMSFRPLSQCLFWLLVADLLILTWIGGQPVEHPYVIIGQLASILYFSTIIILMPLTSLLENHLLKW
UniProt ID: Q957A7
Variant: S -> T at position 316-316
Variant annotation: in strain: Isolate CMF 960522.46 and Isolate FMNHEAR1223
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:
MTNIRKSHPLMKIINSSFIDLPAPSNISSWWNFGSLLGICLALQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWILRYLHANGASMFFICLYLHVGRGLYYGSYMYTETWNIGIILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFLLPFIISAMVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLLLMITVLLALVLFSPDMLGDPDNYMPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAAIPLLHTSKQRSMSFRPLSQCLFWLLVADLLILTWIGGQPVEHPYVIIGQLASILYFSTIIILMPLTSLLENHLLKW
UniProt ID: Q957A7
Variant: V -> M at position 348-348
Variant annotation: in strain: Isolate FMNHEAR1223
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:
MTNIRKSHPLMKIINSSFIDLPAPSNISSWWNFGSLLGICLALQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWILRYLHANGASMFFICLYLHVGRGLYYGSYMYTETWNIGIILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFLLPFIISAMVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLLLMITVLLALVLFSPDMLGDPDNYMPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAAIPLLHTSKQRSMSFRPLSQCLFWLLVADLLILTWIGGQPVEHPYVIIGQLASILYFSTIIILMPLTSLLENHLLKW
UniProt ID: Q957A7
Variant: I -> T at position 356-356
Variant annotation: in strain: Isolate CMF 960522.46
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:
MTNIRKSHPLMKIINSSFIDLPAPSNISSWWNFGSLLGICLALQILTGLFLAMHYTSDTATAFNSVTHICRDVNYGWILRYLHANGASMFFICLYLHVGRGLYYGSYMYTETWNIGIILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFLLPFIISAMVMVHLLFLHETGSNNPTGIPSNMDMIPFHPYYTIKDILGLLLMITVLLALVLFSPDMLGDPDNYMPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAAIPLLHTSKQRSMSFRPLSQCLFWLLVADLLILTWIGGQPVEHPYVIIGQLASILYFSTIIILMPLTSLLENHLLKW
UniProt ID: Q95891
Variant: M -> T at position 15-15
Variant annotation: in strain: Coolidgei
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 of complex I.
Reference sequence:
MNMLTALLVNITLSMLLIIVAFWLPQLNLYTEKANPYECGFDPMGSARLPFSMKFFLVAITFLLFDLEIALLLPLPWAIQMYNIDIMMLTAFILVSVLALGLAYEWLQKGLEWTE
UniProt ID: Q95891
Variant: V -> I at position 20-20
Variant annotation: in strain: Austericus and Rufinus
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 of complex I.
Reference sequence:
MNMLTALLVNITLSMLLIIVAFWLPQLNLYTEKANPYECGFDPMGSARLPFSMKFFLVAITFLLFDLEIALLLPLPWAIQMYNIDIMMLTAFILVSVLALGLAYEWLQKGLEWTE
UniProt ID: Q95891
Variant: D -> E at position 42-42
Variant annotation: in strain: Rufinus
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 of complex I.
Reference sequence:
MNMLTALLVNITLSMLLIIVAFWLPQLNLYTEKANPYECGFDPMGSARLPFSMKFFLVAITFLLFDLEIALLLPLPWAIQMYNIDIMMLTAFILVSVLALGLAYEWLQKGLEWTE
UniProt ID: Q95891
Variant: F -> L at position 56-56
Variant annotation: in strain: Oreas
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 of complex I.
Reference sequence:
MNMLTALLVNITLSMLLIIVAFWLPQLNLYTEKANPYECGFDPMGSARLPFSMKFFLVAITFLLFDLEIALLLPLPWAIQMYNIDIMMLTAFILVSVLALGLAYEWLQKGLEWTE
UniProt ID: Q95891
Variant: I -> T at position 84-84
Variant annotation: in strain: Coolidgei
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 of complex I.
Reference sequence:
MNMLTALLVNITLSMLLIIVAFWLPQLNLYTEKANPYECGFDPMGSARLPFSMKFFLVAITFLLFDLEIALLLPLPWAIQMYNIDIMMLTAFILVSVLALGLAYEWLQKGLEWTE
UniProt ID: Q95891
Variant: D -> N at position 85-85
Variant annotation: in strain: Austericus, Coolidgei and Rufinus
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 of complex I.
Reference sequence:
MNMLTALLVNITLSMLLIIVAFWLPQLNLYTEKANPYECGFDPMGSARLPFSMKFFLVAITFLLFDLEIALLLPLPWAIQMYNIDIMMLTAFILVSVLALGLAYEWLQKGLEWTE
UniProt ID: Q95891
Variant: Y -> H at position 104-104
Variant annotation: in strain: Rufinus
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 of complex I.
Reference sequence:
MNMLTALLVNITLSMLLIIVAFWLPQLNLYTEKANPYECGFDPMGSARLPFSMKFFLVAITFLLFDLEIALLLPLPWAIQMYNIDIMMLTAFILVSVLALGLAYEWLQKGLEWTE
UniProt ID: Q95A26
Variant: D -> N at position 4-4
Variant annotation: in strain: Isolate Anna
Protein function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane.
Reference sequence:
MNEDLFTPFTTPTVLGLPAAILVILFPPLLVPTSKHFINNRLITTQQWLIRLTLKQMMITHNTKGRTWSLMLTSLIIFIASTNLLGLFPYSFTPTTQLSMNLAMAIPLWASTVAMGLRFKAKISLAHLLPQGTPTPLIPMLIIIETISLFIQPLALAVRLTANITAGHLLMHLIGSATLTMLTINLPLTLITLTILTLLTILEIAVALIQAYVFTLLVSLYLHDNS
UniProt ID: Q95A26
Variant: T -> A at position 178-178
Variant annotation: in strain: Isolate Anna
Protein function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane.
Reference sequence:
MNEDLFTPFTTPTVLGLPAAILVILFPPLLVPTSKHFINNRLITTQQWLIRLTLKQMMITHNTKGRTWSLMLTSLIIFIASTNLLGLFPYSFTPTTQLSMNLAMAIPLWASTVAMGLRFKAKISLAHLLPQGTPTPLIPMLIIIETISLFIQPLALAVRLTANITAGHLLMHLIGSATLTMLTINLPLTLITLTILTLLTILEIAVALIQAYVFTLLVSLYLHDNS
UniProt ID: Q95LB0
Variant: K -> E at position 229-229
Variant annotation: in allele APOH*4
Protein function: Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells.
Reference sequence:
MISPVLILFSSFLCHVAIAGRTCPKPDDLPFSTVVPLKTFYEPGEEITYSCKPGYVSRGGMRKFICPLTGLWPINTLKCTPRVCPFAGILENGAVRYTTFEYPNTISFSCNTGFYLNGADSAKCTEEGKWSPELPVCAPITCPPPSIPTFATLHVYKPSAGNNSLYRDTAVFECLPQHAMFGNDTITCTTHGNWTKLPECREVKCPFPSRPDNGFVNYPAKPTLYYKDKATFGCHDGYSLDGPEEIECTKLGNWSAMPSCKASCKVPVKKATVVYQGERVKIQEKFKNGMLHGDKVSFFCKNKEKKCSYTEDAQCIDGTIEVPKCFKEHSSLAFWKTDASDVKPC
UniProt ID: Q95LI5
Variant: E -> G at position 67-67
Variant annotation: in allele FN18-
Protein function: Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways. In addition of this role of signal transduction in T-cell activation, CD3E plays an essential role in correct T-cell development. Initiates the TCR-CD3 complex assembly by forming the two heterodimers CD3D/CD3E and CD3G/CD3E. Participates also in internalization and cell surface down-regulation of TCR-CD3 complexes via endocytosis sequences present in CD3E cytosolic region.
Reference sequence:
MQSGTRWRVLGLCLLSIGVWGQDGNEEMGSITQTPYQVSISGTTVILTCSQHLGSEAQWQHNGKNKEDSGDRLFLPEFSEMEQSGYYVCYPRGSNPEDASHHLYLKARVCENCMEMDVMAVATIVIVDICITLGLLLLVYYWSKNRKAKAKPVTRGAGAGGRQRGQNKERPPPVPNPDYEPIRKGQQDLYSGLNQRRI
UniProt ID: Q95LI5
Variant: R -> Q at position 72-72
Variant annotation: in allele FN18-
Protein function: Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways. In addition of this role of signal transduction in T-cell activation, CD3E plays an essential role in correct T-cell development. Initiates the TCR-CD3 complex assembly by forming the two heterodimers CD3D/CD3E and CD3G/CD3E. Participates also in internalization and cell surface down-regulation of TCR-CD3 complexes via endocytosis sequences present in CD3E cytosolic region.
Reference sequence:
MQSGTRWRVLGLCLLSIGVWGQDGNEEMGSITQTPYQVSISGTTVILTCSQHLGSEAQWQHNGKNKEDSGDRLFLPEFSEMEQSGYYVCYPRGSNPEDASHHLYLKARVCENCMEMDVMAVATIVIVDICITLGLLLLVYYWSKNRKAKAKPVTRGAGAGGRQRGQNKERPPPVPNPDYEPIRKGQQDLYSGLNQRRI
UniProt ID: Q95MI1
Variant: T -> I at position 7-7
Variant annotation: in allele NKG2-F*02
Protein function: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells.
Reference sequence:
MNKQRGTYSEVSLAQDPKRQQRKLKGNKSSISGTKQEIFQVELNLQNASSDHQGNDKTYHCKGLLPPPERLTAEVLGIICIVLMATVLKTIVLIPCIGVLEQNNFSLNRRMQKACDCGHCPEEWITYSNSCYYIGKERRTWEEGVCWPVLQRTLICFL
UniProt ID: Q95MI1
Variant: R -> K at position 22-22
Variant annotation: in allele NKG2-F*02
Protein function: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells.
Reference sequence:
MNKQRGTYSEVSLAQDPKRQQRKLKGNKSSISGTKQEIFQVELNLQNASSDHQGNDKTYHCKGLLPPPERLTAEVLGIICIVLMATVLKTIVLIPCIGVLEQNNFSLNRRMQKACDCGHCPEEWITYSNSCYYIGKERRTWEEGVCWPVLQRTLICFL
UniProt ID: Q95MI1
Variant: K -> E at position 35-35
Variant annotation: in allele NKG2-F*02, allele NKG2-F*04 and allele NKG2-F*05
Protein function: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells.
Reference sequence:
MNKQRGTYSEVSLAQDPKRQQRKLKGNKSSISGTKQEIFQVELNLQNASSDHQGNDKTYHCKGLLPPPERLTAEVLGIICIVLMATVLKTIVLIPCIGVLEQNNFSLNRRMQKACDCGHCPEEWITYSNSCYYIGKERRTWEEGVCWPVLQRTLICFL
UniProt ID: Q95MI1
Variant: R -> K at position 70-70
Variant annotation: in allele NKG2-F*02, allele NKG2-F*04 and allele NKG2-F*05
Protein function: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells.
Reference sequence:
MNKQRGTYSEVSLAQDPKRQQRKLKGNKSSISGTKQEIFQVELNLQNASSDHQGNDKTYHCKGLLPPPERLTAEVLGIICIVLMATVLKTIVLIPCIGVLEQNNFSLNRRMQKACDCGHCPEEWITYSNSCYYIGKERRTWEEGVCWPVLQRTLICFL
UniProt ID: Q95MI1
Variant: T -> I at position 90-90
Variant annotation: in allele NKG2-F*04
Protein function: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells.
Reference sequence:
MNKQRGTYSEVSLAQDPKRQQRKLKGNKSSISGTKQEIFQVELNLQNASSDHQGNDKTYHCKGLLPPPERLTAEVLGIICIVLMATVLKTIVLIPCIGVLEQNNFSLNRRMQKACDCGHCPEEWITYSNSCYYIGKERRTWEEGVCWPVLQRTLICFL
UniProt ID: Q95MI1
Variant: H -> R at position 119-119
Variant annotation: in allele NKG2-F*02
Protein function: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells.
Reference sequence:
MNKQRGTYSEVSLAQDPKRQQRKLKGNKSSISGTKQEIFQVELNLQNASSDHQGNDKTYHCKGLLPPPERLTAEVLGIICIVLMATVLKTIVLIPCIGVLEQNNFSLNRRMQKACDCGHCPEEWITYSNSCYYIGKERRTWEEGVCWPVLQRTLICFL
UniProt ID: Q95MI1
Variant: T -> I at position 126-126
Variant annotation: in allele NKG2-F*04 and allele NKG2-F*05
Protein function: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells.
Reference sequence:
MNKQRGTYSEVSLAQDPKRQQRKLKGNKSSISGTKQEIFQVELNLQNASSDHQGNDKTYHCKGLLPPPERLTAEVLGIICIVLMATVLKTIVLIPCIGVLEQNNFSLNRRMQKACDCGHCPEEWITYSNSCYYIGKERRTWEEGVCWPVLQRTLICFL
UniProt ID: Q95MI1
Variant: G -> R at position 144-144
Variant annotation: in allele NKG2-F*02, allele NKG2-F*04 and allele NKG2-F*05
Protein function: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells.
Reference sequence:
MNKQRGTYSEVSLAQDPKRQQRKLKGNKSSISGTKQEIFQVELNLQNASSDHQGNDKTYHCKGLLPPPERLTAEVLGIICIVLMATVLKTIVLIPCIGVLEQNNFSLNRRMQKACDCGHCPEEWITYSNSCYYIGKERRTWEEGVCWPVLQRTLICFL
UniProt ID: Q95MI1
Variant: Q -> R at position 151-151
Variant annotation: in allele NKG2-F*02, allele NKG2-F*03, allele NKG2-F*04 and allele NKG2-F*05
Protein function: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells.
Reference sequence:
MNKQRGTYSEVSLAQDPKRQQRKLKGNKSSISGTKQEIFQVELNLQNASSDHQGNDKTYHCKGLLPPPERLTAEVLGIICIVLMATVLKTIVLIPCIGVLEQNNFSLNRRMQKACDCGHCPEEWITYSNSCYYIGKERRTWEEGVCWPVLQRTLICFL