sujigwak/NVAR huggingface dataset:
UniProt ID: Q1HK80
Variant: T -> I at position 371-371
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:
MNMFSSCMITALVILTLPIIMSSTKLYKNKLYPYYVKTATSYAFMISMIPTMMFIYSGQETIISNWHWMTIQTMKLSMSFKLDYFSMIFVPVALFVTWSIMEFSMWYMHSDPYINRFFKYLLLFLITMMVLVTANNMFQLFIGWEGVGIMSFLLIGWWYGRTDANTAALQAVLYNRIGDVGFIMTMAWFLLNLNTWDLQQIFITTNDNFNLPLLGLLLAATGKSAQFGLHPWLPSAMEGPTPVSALLHSSTMVVAGVFLLIRFHPLMEHNQTIQTLTLCLGAITTLFTAICALTQNDIKKIVAFSTSSQLGLMMVTIGINQPYLAFLHICTHAFFKAMLFMCSGSIIHSLNDEQDIRKMGGLFKVLPFTTTSLIIGSLALTGMPFLTGFYSKDLIIESANTSNTNAWALLITLVATSLTAAYSTRIMFFALLGQPRFSPMILINENNPLLINSIKRLLIGSVFAGYIISHSITPTTIPQMTMPHYLKMTALAVTILGFILALELNLTTQGLKFNYPSNYFKFSSLLGYYPTIMHRLTPKTSLTISQKSASMLLDSIWLENILPKSISYFQMKSSTLISNQKGLIKLYFLSFMLTMILSLLILNYHG
UniProt ID: Q1HK80
Variant: I -> V at position 375-375
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:
MNMFSSCMITALVILTLPIIMSSTKLYKNKLYPYYVKTATSYAFMISMIPTMMFIYSGQETIISNWHWMTIQTMKLSMSFKLDYFSMIFVPVALFVTWSIMEFSMWYMHSDPYINRFFKYLLLFLITMMVLVTANNMFQLFIGWEGVGIMSFLLIGWWYGRTDANTAALQAVLYNRIGDVGFIMTMAWFLLNLNTWDLQQIFITTNDNFNLPLLGLLLAATGKSAQFGLHPWLPSAMEGPTPVSALLHSSTMVVAGVFLLIRFHPLMEHNQTIQTLTLCLGAITTLFTAICALTQNDIKKIVAFSTSSQLGLMMVTIGINQPYLAFLHICTHAFFKAMLFMCSGSIIHSLNDEQDIRKMGGLFKVLPFTTTSLIIGSLALTGMPFLTGFYSKDLIIESANTSNTNAWALLITLVATSLTAAYSTRIMFFALLGQPRFSPMILINENNPLLINSIKRLLIGSVFAGYIISHSITPTTIPQMTMPHYLKMTALAVTILGFILALELNLTTQGLKFNYPSNYFKFSSLLGYYPTIMHRLTPKTSLTISQKSASMLLDSIWLENILPKSISYFQMKSSTLISNQKGLIKLYFLSFMLTMILSLLILNYHG
UniProt ID: Q1HK80
Variant: L -> H at position 442-442
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:
MNMFSSCMITALVILTLPIIMSSTKLYKNKLYPYYVKTATSYAFMISMIPTMMFIYSGQETIISNWHWMTIQTMKLSMSFKLDYFSMIFVPVALFVTWSIMEFSMWYMHSDPYINRFFKYLLLFLITMMVLVTANNMFQLFIGWEGVGIMSFLLIGWWYGRTDANTAALQAVLYNRIGDVGFIMTMAWFLLNLNTWDLQQIFITTNDNFNLPLLGLLLAATGKSAQFGLHPWLPSAMEGPTPVSALLHSSTMVVAGVFLLIRFHPLMEHNQTIQTLTLCLGAITTLFTAICALTQNDIKKIVAFSTSSQLGLMMVTIGINQPYLAFLHICTHAFFKAMLFMCSGSIIHSLNDEQDIRKMGGLFKVLPFTTTSLIIGSLALTGMPFLTGFYSKDLIIESANTSNTNAWALLITLVATSLTAAYSTRIMFFALLGQPRFSPMILINENNPLLINSIKRLLIGSVFAGYIISHSITPTTIPQMTMPHYLKMTALAVTILGFILALELNLTTQGLKFNYPSNYFKFSSLLGYYPTIMHRLTPKTSLTISQKSASMLLDSIWLENILPKSISYFQMKSSTLISNQKGLIKLYFLSFMLTMILSLLILNYHG
UniProt ID: Q1HK80
Variant: T -> M at position 489-489
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:
MNMFSSCMITALVILTLPIIMSSTKLYKNKLYPYYVKTATSYAFMISMIPTMMFIYSGQETIISNWHWMTIQTMKLSMSFKLDYFSMIFVPVALFVTWSIMEFSMWYMHSDPYINRFFKYLLLFLITMMVLVTANNMFQLFIGWEGVGIMSFLLIGWWYGRTDANTAALQAVLYNRIGDVGFIMTMAWFLLNLNTWDLQQIFITTNDNFNLPLLGLLLAATGKSAQFGLHPWLPSAMEGPTPVSALLHSSTMVVAGVFLLIRFHPLMEHNQTIQTLTLCLGAITTLFTAICALTQNDIKKIVAFSTSSQLGLMMVTIGINQPYLAFLHICTHAFFKAMLFMCSGSIIHSLNDEQDIRKMGGLFKVLPFTTTSLIIGSLALTGMPFLTGFYSKDLIIESANTSNTNAWALLITLVATSLTAAYSTRIMFFALLGQPRFSPMILINENNPLLINSIKRLLIGSVFAGYIISHSITPTTIPQMTMPHYLKMTALAVTILGFILALELNLTTQGLKFNYPSNYFKFSSLLGYYPTIMHRLTPKTSLTISQKSASMLLDSIWLENILPKSISYFQMKSSTLISNQKGLIKLYFLSFMLTMILSLLILNYHG
UniProt ID: Q1HK80
Variant: I -> M at position 495-495
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:
MNMFSSCMITALVILTLPIIMSSTKLYKNKLYPYYVKTATSYAFMISMIPTMMFIYSGQETIISNWHWMTIQTMKLSMSFKLDYFSMIFVPVALFVTWSIMEFSMWYMHSDPYINRFFKYLLLFLITMMVLVTANNMFQLFIGWEGVGIMSFLLIGWWYGRTDANTAALQAVLYNRIGDVGFIMTMAWFLLNLNTWDLQQIFITTNDNFNLPLLGLLLAATGKSAQFGLHPWLPSAMEGPTPVSALLHSSTMVVAGVFLLIRFHPLMEHNQTIQTLTLCLGAITTLFTAICALTQNDIKKIVAFSTSSQLGLMMVTIGINQPYLAFLHICTHAFFKAMLFMCSGSIIHSLNDEQDIRKMGGLFKVLPFTTTSLIIGSLALTGMPFLTGFYSKDLIIESANTSNTNAWALLITLVATSLTAAYSTRIMFFALLGQPRFSPMILINENNPLLINSIKRLLIGSVFAGYIISHSITPTTIPQMTMPHYLKMTALAVTILGFILALELNLTTQGLKFNYPSNYFKFSSLLGYYPTIMHRLTPKTSLTISQKSASMLLDSIWLENILPKSISYFQMKSSTLISNQKGLIKLYFLSFMLTMILSLLILNYHG
UniProt ID: Q1HK97
Variant: V -> I at position 84-84
Protein function: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
Reference sequence:
MTHQTHAYHMVNPSPWPLTGALSALLMTSGLIMWFHYNSMSLLTLGFTTNLLTMYQWWRDVIREGTFQGHHTPIVQKGLRYGMVLFIVSEVFFFAGFFWAFYHSSLAPTPELGGCWPPTGIIPLNPLEVPLLNTSVLLASGVSITWAHHSLMEGNRKHMLQALFITISLGVYFTLLQASEYYETSFTISDGVYGSTFFMATGFHGLHVIIGSTFLIVCFLRQLYYHFTSNHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS
UniProt ID: Q1L6U9
Variant: G -> V at position 116-116
Variant annotation: in dbSNP:rs3750436
Protein function: Acts as a ligand for C-C chemokine receptor CCR2 . Signals through binding and activation of CCR2 and induces a strong chemotactic response and mobilization of intracellular calcium ions . Exhibits a chemotactic activity for monocytes and lymphocytes but not neutrophils .
Reference sequence:
MALRMLWAGQAKGILGGWGIICLVMSLLLQHPGVYSKCYFQAQAPCHYEGKYFTLGESWLRKDCFHCTCLHPVGVGCCDTSQHPIDFPAGCEVRQEAGTCQFSLVQKSDPRLPCKGGGPDPEWGSANTPVPGAPAPHSS
UniProt ID: Q1M0V6
Variant: R -> Q at position 115-115
Variant annotation: in strain: River-type
Protein function: Glycosyltransferase that can synthesize all known mucin beta 6 N-acetylglucosaminides. Mediates core 2 and core 4 O-glycan branching, 2 important steps in mucin-type biosynthesis. Has also I-branching enzyme activity by converting linear into branched poly-N-acetyllactosaminoglycans, leading to introduce the blood group I antigen during embryonic development.
Reference sequence:
MKMTGWKKKLCRGHHLWALGCYMLLAVVALRLSLRLKCDVDSLDLESRDFQSQRCRDVLYKNLKLPAKRSINCSGITRGDQEAVVQALLDNLEVKKKRLPFTDTYYLNITRDCERFKAQRKFIQFPLSKEELDFPIAYSMVVHEKIENFERLLRAVYAPQNIYCVHVDVKSPEAFKEAVKAIISCFPNVFMASKLVPVVYASWSRVQADLNCMEDLLQSSVPWKYLLNTCGTDFPIKTNAEMVLALKMLNGKNSMESEIPSEYKKNRWKYRYEVTDRLYLTSKMKDPPPDNLPMFTGNAYFVASRAFVQHVLENPKSQRLIEWVKDTYSPDEHLWATLQRAPWMPGSVPYHPKYHISDMTAIARLVKWQNHEGDVSMGAPYAPCSGIHQRAICIYGAGDLHWILQNHHLLANKFDPRVDDNVLQCLEEYLRHKAIYGTEL
UniProt ID: Q1MSJ5
Variant: R -> H at position 907-907
Variant annotation: in dbSNP:rs16933182
Protein function: May play a role in cell-cycle-dependent microtubule organization.
Reference sequence:
MLFPLQVAAVTSSVRDDPLEHCVSPRTRARSPEICKMADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGSLGIDYGLSLPLGEDYERKKHKLKEELRQDYRRYLTQGITQGKRKKNFLSTSETDPSTLGVSLPIGERLSAKERLKLERNKEYNQFLRGKEESSEKFRQVEKSTEPKSQRNKKPIGQVKPDLTSQIQTSCENSEGPRKDVLTPSEAYEELLNQRRLEEDRYRQLDDEIELRNRRIIKKANEEVGISNLKHQRFASKAGIPDRRFHRFNEDRVFDRRYHRPDQDPEVSEEMDERFRYESDFDRRLSRVYTNDRMHRNKRGNMPPMEHDGDVIEQSNIRISSAENKSAPDNETSKSANQDTCSPFAGMLFGGEDRELIQRRKEKYRLELLEQMAEQQRNKRREKDLELRVAASGAQDPEKSPDRLKQFSVAPRHFEEMIPPERPRIAFQTPLPPLSAPSVPPIPSVHPVPSQNEDLRSGLSSALGEMVSPRIAPLPPPPLLPPLATNYRTPYDDAYYFYGSRNTFDPSLAYYGSGMMGVQPAAYVSAPVTHQLAQPVVNTVGQNELKITSDQVINSGLIFEDKPKPSKQSLQSYQEALQQQIREREERRKKEREEKEEYEAKLEAEMRTYNPWGKGGGGAPLRDAKGNLITDLNRMHRQNIDAYHNPDARTYEDKRAVVSLDPNLATSNAENLEDAANKSSGHMQTQSSPFARGNVFGEPPTELQIKQQELYKNFLRFQIEEKKQREEAERERLRIAEEKEERRLAEQRARIQQEYEEEQEKKREKEEEQRLKNEEHIRLAEERQKEAERKKKEEEEKYNLQLQHYCERDNLIGEETKHMRQPSPIVPALQNKIASKLQRPPSVDSIIRSFIHESSMSRAQSPPVPARKNQLRAEEEKKNVIMELSEMRKQLRSEERRLQERLLHMDSDDEIPIRKKERNPMDIFDMARHRLQAPVRRQSPKGLDAATFQNVHDFNELKDRDSETRVDLKFMYLDPPRDHHTLEIQQQALLREQQKRLNRIKMQEGAKVDLDAIPSAKVREQRMPRDDTSDFLKNSLLESDSAFIGAYGETYPAIEDDVLPPPSQLPSARERRRNKWKGLDIDSSRPNVAPDGLSLKSISSVNVDELRVRNEERMRRLNEFHNKPINTDDESSLVDPDDIMKHIGDDGSNSVATEPWLRPGTSETLKRFMAEQLNQEQQQIPGKPGTFTWQGLSTAHG
UniProt ID: Q1MSJ5
Variant: W -> R at position 1135-1135
Variant annotation: in dbSNP:rs1808140
Protein function: May play a role in cell-cycle-dependent microtubule organization.
Reference sequence:
MLFPLQVAAVTSSVRDDPLEHCVSPRTRARSPEICKMADNLDEFIEEQKARLAEDKAELESDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGSLGIDYGLSLPLGEDYERKKHKLKEELRQDYRRYLTQGITQGKRKKNFLSTSETDPSTLGVSLPIGERLSAKERLKLERNKEYNQFLRGKEESSEKFRQVEKSTEPKSQRNKKPIGQVKPDLTSQIQTSCENSEGPRKDVLTPSEAYEELLNQRRLEEDRYRQLDDEIELRNRRIIKKANEEVGISNLKHQRFASKAGIPDRRFHRFNEDRVFDRRYHRPDQDPEVSEEMDERFRYESDFDRRLSRVYTNDRMHRNKRGNMPPMEHDGDVIEQSNIRISSAENKSAPDNETSKSANQDTCSPFAGMLFGGEDRELIQRRKEKYRLELLEQMAEQQRNKRREKDLELRVAASGAQDPEKSPDRLKQFSVAPRHFEEMIPPERPRIAFQTPLPPLSAPSVPPIPSVHPVPSQNEDLRSGLSSALGEMVSPRIAPLPPPPLLPPLATNYRTPYDDAYYFYGSRNTFDPSLAYYGSGMMGVQPAAYVSAPVTHQLAQPVVNTVGQNELKITSDQVINSGLIFEDKPKPSKQSLQSYQEALQQQIREREERRKKEREEKEEYEAKLEAEMRTYNPWGKGGGGAPLRDAKGNLITDLNRMHRQNIDAYHNPDARTYEDKRAVVSLDPNLATSNAENLEDAANKSSGHMQTQSSPFARGNVFGEPPTELQIKQQELYKNFLRFQIEEKKQREEAERERLRIAEEKEERRLAEQRARIQQEYEEEQEKKREKEEEQRLKNEEHIRLAEERQKEAERKKKEEEEKYNLQLQHYCERDNLIGEETKHMRQPSPIVPALQNKIASKLQRPPSVDSIIRSFIHESSMSRAQSPPVPARKNQLRAEEEKKNVIMELSEMRKQLRSEERRLQERLLHMDSDDEIPIRKKERNPMDIFDMARHRLQAPVRRQSPKGLDAATFQNVHDFNELKDRDSETRVDLKFMYLDPPRDHHTLEIQQQALLREQQKRLNRIKMQEGAKVDLDAIPSAKVREQRMPRDDTSDFLKNSLLESDSAFIGAYGETYPAIEDDVLPPPSQLPSARERRRNKWKGLDIDSSRPNVAPDGLSLKSISSVNVDELRVRNEERMRRLNEFHNKPINTDDESSLVDPDDIMKHIGDDGSNSVATEPWLRPGTSETLKRFMAEQLNQEQQQIPGKPGTFTWQGLSTAHG
UniProt ID: Q1XA12
Variant: I -> T at position 323-323
Variant annotation: in strain: Isolate SA 03
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:
MTIMRKNHPLLKLVNNSFIDLPTPSSISSWWNFGSLLGVCLIMQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWLIRYLHANGASMFFICMFIHVGRGIYYGSYMLSETWNIGIILLLTTMATAFVGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFIITAFVLVHLLFLHETGSNNPSGLNSDSDKIPFHPYYTIKDLLGVLLLLMVLMILVLFFPDVLGDPDNYTPANPLNTPAHIKPEWYFLFAYAILRSIPNKLGGVLALILSILVLALFPLINSSKQHGLVYRPITQIIYWIFIANLIILTWVGGQPVEYPFTMIGQIASIMYFSIIIIFMPMASMIENDILKLHY
UniProt ID: Q1XIK7
Variant: V -> I at position 39-39
Variant annotation: in strain: Isolate IZEA7514
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:
MTNLRKTHPLMKIVNSSFIDLPAPSNISSWWNFGSLLGVCLIIQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYLHANGASMFFICLFLHVGRGLYYGSYMYLETWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGSDLVEWIWGGFSVDKATLTRFFAFHFILPFIIAALAGVHLLFLHETGSNNPSGLCSDADKIPFHPYYTIKDILGVLLLILALTSLVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILAVVPFLHTSKQRSMMFRPFSQCLFWILVADLLTLTWIGGQPVEHPFIIIGQLASILYFLLILVIMPITSLFENNLLKW
UniProt ID: Q1XIL4
Variant: K -> T at position 6-6
Variant annotation: in strain: Isolate SO-03/2/17-2
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:
MTNLRKTHPLMKIINNSFIDLPAPSNISSWWNFGSLLGICLIVQILTGLFLAMHYTSDTTTAFSSVTHICRDVNYGWLIRYLHANGASMFFICLFLHVGRGIYYGSYMFLETWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFILPFIVAALAGVHLLFLHETGSNNPSGLPSDADKIPFHPYYTIKDILGVLLFILILTSLVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILVLAVIPLLHTSKQRSMMFRPFSQCLFWILVADLLTLTWIGGQPVEHPFIIIGQLASILYFLLILVLMPIASLLENNLLKW
UniProt ID: Q1XIL4
Variant: I -> T at position 39-39
Variant annotation: in strain: Isolate SO-03/2/17-2
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:
MTNLRKTHPLMKIINNSFIDLPAPSNISSWWNFGSLLGICLIVQILTGLFLAMHYTSDTTTAFSSVTHICRDVNYGWLIRYLHANGASMFFICLFLHVGRGIYYGSYMFLETWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFILPFIVAALAGVHLLFLHETGSNNPSGLPSDADKIPFHPYYTIKDILGVLLFILILTSLVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILVLAVIPLLHTSKQRSMMFRPFSQCLFWILVADLLTLTWIGGQPVEHPFIIIGQLASILYFLLILVLMPIASLLENNLLKW
UniProt ID: Q1XIL4
Variant: S -> L at position 213-213
Variant annotation: in strain: Isolate SO-03/2/17-2
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:
MTNLRKTHPLMKIINNSFIDLPAPSNISSWWNFGSLLGICLIVQILTGLFLAMHYTSDTTTAFSSVTHICRDVNYGWLIRYLHANGASMFFICLFLHVGRGIYYGSYMFLETWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFILPFIVAALAGVHLLFLHETGSNNPSGLPSDADKIPFHPYYTIKDILGVLLFILILTSLVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILVLAVIPLLHTSKQRSMMFRPFSQCLFWILVADLLTLTWIGGQPVEHPFIIIGQLASILYFLLILVLMPIASLLENNLLKW
UniProt ID: Q1XIP3
Variant: I -> M at position 92-92
Variant annotation: in strain: Isolate SO-2000/12/28-1
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:
MTNIRKTHPLMKIINNSFIDLPTPSNISSWWNFGSLLGICLIIQILTGLFLAMHYTSDTLTAFSSVTHICRDVNYGWLIRYLHANGASMFFICLFLHVGRGLYYGSYLFLETWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGSDLVQWIWGGFSVDKATLTRFFAFHFILPFIVAALAGVHLLFLHETGSNNPSGLSSDADKIPFHPYYTIKDILGALMLILILMMLVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILVLAFMPLLHTSKQRSMMFRPLSQCLFWILVADLIILTWIGGQPVEHPFIIIGQLASILYFMLILILMPLVSLFENNLMKW
UniProt ID: Q1XIP3
Variant: I -> T at position 334-334
Variant annotation: in strain: Isolate SO-2000/12/28-1
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:
MTNIRKTHPLMKIINNSFIDLPTPSNISSWWNFGSLLGICLIIQILTGLFLAMHYTSDTLTAFSSVTHICRDVNYGWLIRYLHANGASMFFICLFLHVGRGLYYGSYLFLETWNIGVLLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGSDLVQWIWGGFSVDKATLTRFFAFHFILPFIVAALAGVHLLFLHETGSNNPSGLSSDADKIPFHPYYTIKDILGALMLILILMMLVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILVLAFMPLLHTSKQRSMMFRPLSQCLFWILVADLIILTWIGGQPVEHPFIIIGQLASILYFMLILILMPLVSLFENNLMKW
UniProt ID: Q1XIP7
Variant: L -> F at position 18-18
Variant annotation: in strain: Isolate AMNH 101508
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:
MNNIRKIHPLVKIINSSLIDLPAPSNISSWWNFGSLLGICLITQILTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYLHANGASMFFICLFLHVGRGLYYGSYMYLETWNIGILLLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFILPFIVAALAGVHLLFLHETGSNNPSGLNSDTDKIPFHPYYTIKDILGALIMITILSSLVLFSPDMLGDPDNYIPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSIAILAVIPLLHTAKQRSMMFRPMSQCLFWILVADLLTLTWIGGQPVEHPFVVIGQLASVTYFTLILLIMPITSMIENQLLKW
UniProt ID: Q1ZXF7
Variant: G -> D at position 108-108
Variant annotation: in strain: HL250; loss of activity
Effect: loss
Protein function: Participates in the synthesis of GDP-L-fucose, catalyzing the conversion of GDP-D-mannose to GDP-4-dehydro-6-deoxy-D-mannose (GDP-4-dehydro-alpha-D-rhamnose) which is further catalyzed by GDP-L-fucose synthase (ger) . GDP-L-fucose is important for the synthesis of fucosylated N-glycans which are expressed on the cell surface .
Reference sequence:
MSEERKVALITGITGQDGSYLTEFLISKGYYVHGIIQKIFHHFNTIVKNIYIKIDMLKEKESLTLHYGDLTDASNLHSIVSKVNPTEIYNLGAQSHVKVSFDMSEYTGDVDGLGCLRLLDAIRSCGMEKKVKYYQASTSELYGKVQEIPQSETTPFYPRSPYAVAKQYAYWIVVNYREAYDMYACNGILFNHESPRRGPTFVTRKITRFVAGIACGRDEILYLGNINAKRDWGHARDYVEAMWLMLQQEKPEDFVIATGETHSVREFVEKSFKEIDIIIKWRGEAEKEEGYCEKTGKVYVKIDEKYYRPTEVDLLLGNPNKAKKLLQWQIKTSFGELVKEMVAKDIEYIKNGDKYN
UniProt ID: Q1ZYR2
Variant: A -> V at position 215-215
Variant annotation: in strain: Isolate C-type
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:
MTNIRKSHPLFKIINDSFIDLPAPSSISSWWNFGSLLGVCLAVQILTGLFLAMHYTSDTATAFYSVTHICRDVNYGWVLRYLHANGASMFFICLFLHVGRGIYYGSYTFSETWNIGIILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYVGTTLVEWVWGGFSVDKATLTRFFALHFLLPFIISAMVMVHLLFLHETGSNNPTGIPSDADMIPFHPYYTIKDILGLVLMLMALLSLVLFAPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVVALVLSILVLAVIPLLHTSKQRSMTFRPLSQCLFWLLVADLLTLTWIGGQPVEHPFIIIGQLASILYFLIILVLMPLASIAENHLLKW
UniProt ID: Q23973
Variant: Q -> QQ at position 89-89
Variant annotation: in strain: NC335, NC390, NC397 and NC774
Protein function: Polo kinase inhibitor required to maintain G2 arrest in the meiotic cell cycle in females . Holds heterochromatically paired homologs together from the end of pachytene until metaphase I . Haploinsufficient locus for homologous achiasmate segregation and may be required for the maintenance of heterochromatic pairings .
Reference sequence:
MENSRTPTNKTKITLNRTPTLKERRWNTLKVNTSNVRCSTPIFGNFRSPNLSPIENMGTKGKSPVSPMRFATFKKVPTKVHPKQQQQQQHQHCHRTQLKPPPFVLPKPQEEIIEPEREIKSCSSPDTCSDDSNMETSLALESRRRSIKASNHSYVVNHAANVEQILMHMGLENYVTNFEEAHIDLVELASLERADLVKIGLNTDEDCNRIMDVLHTL
UniProt ID: Q23973
Variant: Q -> QQQ at position 89-89
Variant annotation: in strain: NC336 and MW6
Protein function: Polo kinase inhibitor required to maintain G2 arrest in the meiotic cell cycle in females . Holds heterochromatically paired homologs together from the end of pachytene until metaphase I . Haploinsufficient locus for homologous achiasmate segregation and may be required for the maintenance of heterochromatic pairings .
Reference sequence:
MENSRTPTNKTKITLNRTPTLKERRWNTLKVNTSNVRCSTPIFGNFRSPNLSPIENMGTKGKSPVSPMRFATFKKVPTKVHPKQQQQQQHQHCHRTQLKPPPFVLPKPQEEIIEPEREIKSCSSPDTCSDDSNMETSLALESRRRSIKASNHSYVVNHAANVEQILMHMGLENYVTNFEEAHIDLVELASLERADLVKIGLNTDEDCNRIMDVLHTL
UniProt ID: Q23973
Variant: I -> M at position 113-113
Variant annotation: in strain: MW11
Protein function: Polo kinase inhibitor required to maintain G2 arrest in the meiotic cell cycle in females . Holds heterochromatically paired homologs together from the end of pachytene until metaphase I . Haploinsufficient locus for homologous achiasmate segregation and may be required for the maintenance of heterochromatic pairings .
Reference sequence:
MENSRTPTNKTKITLNRTPTLKERRWNTLKVNTSNVRCSTPIFGNFRSPNLSPIENMGTKGKSPVSPMRFATFKKVPTKVHPKQQQQQQHQHCHRTQLKPPPFVLPKPQEEIIEPEREIKSCSSPDTCSDDSNMETSLALESRRRSIKASNHSYVVNHAANVEQILMHMGLENYVTNFEEAHIDLVELASLERADLVKIGLNTDEDCNRIMDVLHTL
UniProt ID: Q23973
Variant: S -> T at position 190-190
Variant annotation: in strain: NC303 and NC399
Protein function: Polo kinase inhibitor required to maintain G2 arrest in the meiotic cell cycle in females . Holds heterochromatically paired homologs together from the end of pachytene until metaphase I . Haploinsufficient locus for homologous achiasmate segregation and may be required for the maintenance of heterochromatic pairings .
Reference sequence:
MENSRTPTNKTKITLNRTPTLKERRWNTLKVNTSNVRCSTPIFGNFRSPNLSPIENMGTKGKSPVSPMRFATFKKVPTKVHPKQQQQQQHQHCHRTQLKPPPFVLPKPQEEIIEPEREIKSCSSPDTCSDDSNMETSLALESRRRSIKASNHSYVVNHAANVEQILMHMGLENYVTNFEEAHIDLVELASLERADLVKIGLNTDEDCNRIMDVLHTL
UniProt ID: Q23985
Variant: Q -> L at position 511-511
Variant annotation: in strain: ZW141
Protein function: Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Mainly acts as a positive regulator of Notch, but it may also act as a negative regulator, depending on the developmental and cell context. Mediates the antineural activity of Notch. May function as a ubiquitin ligase protein in the Notch pathway.
Reference sequence:
MASSAGSAASGSVVPGGGGSAASSCATMALSTAGSGGPPVNHAHAVCVWEFESRGKWLPYSPAVSQHLERAHAKKLTRVMLSDADPSLEQYYVNVRTMTQESEAETAGSGLLTIGVRRMFYAPSSPAGKGTKWEWSGGSADSNNDWRPYNMHVQCIIEDAWARGEQTLDLCNTHIGLPYTINFCNLTQLRQPSGPMRSIRRTQQAPYPLVKLTPQQANQLKSNSASVSSQYNTLPKLGDTKSLHRVPMTRQQHPLPTSHQVQQQQHQHQHQQQQQQQHHHQHQQQQHQQQQQHQMQHHQIHHQTAPRKPPKKHSEISTTNLRQILNNLNIFSSSTKHQSNMSTAASASSSSSSASLHHANHLSHAHFSHAKNMLTASMNSHHSRCSEGSLQSQRSSRMGSHRSRSRTRTSDTDTNSVKSHRRRPSVDTVSTYLSHESKESLRSRNFAISVNDLLDCSLGSDEVFVPSLPPSSLGERAPVPPPLPLHPRQQQQQQQQQQQLQMQQQQQAQQQQQQSIAGSIVGVDPASDMISRFVKVVEPPLWPNAQPCPMCMEELVHSAQNPAISLSRCQHLMHLQCLNGMIIAQQNEMNKNLFIECPVCGIVYGEKVGNQPIGSMSWSIISKNLPGHEGQNTIQIVYDIASGLQTEEHPHPGRAFFAVGFPRICYLPDCPLGRKVLRFLKIAFDRRLLFSIGRSVTTGREDVVIWNSVDHKTQFNMFPDPTYLQRTMQQLVHLGVTD