sujigwak/NVAR huggingface dataset:
UniProt ID: O43933
Variant: A -> E at position 1237-1237
Variant annotation: in PBD-CG1; dbSNP:rs1473858573
Protein function: Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.
Reference sequence:
MWGSDRLAGAGGGGAAVTVAFTNARDCFLHLPRRLVAQLHLLQNQAIEVVWSHQPAFLSWVEGRHFSDQGENVAEINRQVGQKLGLSNGGQVFLKPCSHVVSCQQVEVEPLSADDWEILELHAVSLEQHLLDQIRIVFPKAIFPVWVDQQTYIFIQIVALIPAASYGRLETDTKLLIQPKTRRAKENTFSKADAEYKKLHSYGRDQKGMMKELQTKQLQSNTVGITESNENESEIPVDSSSVASLWTMIGSIFSFQSEKKQETSWGLTEINAFKNMQSKVVPLDNIFRVCKSQPPSIYNASATSVFHKHCAIHVFPWDQEYFDVEPSFTVTYGKLVKLLSPKQQQSKTKQNVLSPEKEKQMSEPLDQKKIRSDHNEEDEKACVLQVVWNGLEELNNAIKYTKNVEVLHLGKVWIPDDLRKRLNIEMHAVVRITPVEVTPKIPRSLKLQPRENLPKDISEEDIKTVFYSWLQQSTTTMLPLVISEEEFIKLETKDGLKEFSLSIVHSWEKEKDKNIFLLSPNLLQKTTIQVLLDPMVKEENSEEIDFILPFLKLSSLGGVNSLGVSSLEHITHSLLGRPLSRQLMSLVAGLRNGALLLTGGKGSGKSTLAKAICKEAFDKLDAHVERVDCKALRGKRLENIQKTLEVAFSEAVWMQPSVVLLDDLDLIAGLPAVPEHEHSPDAVQSQRLAHALNDMIKEFISMGSLVALIATSQSQQSLHPLLVSAQGVHIFQCVQHIQPPNQEQRCEILCNVIKNKLDCDINKFTDLDLQHVAKETGGFVARDFTVLVDRAIHSRLSRQSISTREKLVLTTLDFQKALRGFLPASLRSVNLHKPRDLGWDKIGGLHEVRQILMDTIQLPAKYPELFANLPIRQRTGILLYGPPGTGKTLLAGVIARESRMNFISVKGPELLSKYIGASEQAVRDIFIRAQAAKPCILFFDEFESIAPRRGHDNTGVTDRVVNQLLTQLDGVEGLQGVYVLAATSRPDLIDPALLRPGRLDKCVYCPPPDQVSRLEILNVLSDSLPLADDVDLQHVASVTDSFTGADLKALLYNAQLEALHGMLLSSGLQDGSSSSDSDLSLSSMVFLNHSSGSDDSAGDGECGLDQSLVSLEMSEILPDESKFNMYRLYFGSSYESELGNGTSSDLSSQCLSAPSSMTQDLPGVPGKDQLFSQPPVLRTASQEGCQELTQEQRDQLRADISIIKGRYRSQSGEDESMNQPGPIKTRLAISQSHLMTALGHTRPSISEDDWKNFAELYESFQNPKRRKNQSGTMFRPGQKVTLA
UniProt ID: O45035
Variant: T -> S at position 13-13
Variant annotation: in variants C, D, E, F and H
Protein function: May play a role in the transport of fatty acids. Binds to various fatty acids but not retinoids.
Reference sequence:
MSSFLGKWKLSETHNFDAVMSKLGVSWPIRQMGNTVTPTVTFTMDGDTMTMLTESTFKNLSVTFKFGEEFDEKTSDGRNVKSVVTKDSESKITQTQKDAKNTTVIVREIVGDTMKTTVTVDDVTAIRNYKRL
UniProt ID: O45035
Variant: P -> A at position 28-28
Variant annotation: in variants C, D, E, F and H
Protein function: May play a role in the transport of fatty acids. Binds to various fatty acids but not retinoids.
Reference sequence:
MSSFLGKWKLSETHNFDAVMSKLGVSWPIRQMGNTVTPTVTFTMDGDTMTMLTESTFKNLSVTFKFGEEFDEKTSDGRNVKSVVTKDSESKITQTQKDAKNTTVIVREIVGDTMKTTVTVDDVTAIRNYKRL
UniProt ID: O45035
Variant: I -> T at position 29-29
Variant annotation: in variants C, D, E, F and H
Protein function: May play a role in the transport of fatty acids. Binds to various fatty acids but not retinoids.
Reference sequence:
MSSFLGKWKLSETHNFDAVMSKLGVSWPIRQMGNTVTPTVTFTMDGDTMTMLTESTFKNLSVTFKFGEEFDEKTSDGRNVKSVVTKDSESKITQTQKDAKNTTVIVREIVGDTMKTTVTVDDVTAIRNYKRL
UniProt ID: O45035
Variant: M -> I at position 32-32
Variant annotation: in variants C, D, E, F and H
Protein function: May play a role in the transport of fatty acids. Binds to various fatty acids but not retinoids.
Reference sequence:
MSSFLGKWKLSETHNFDAVMSKLGVSWPIRQMGNTVTPTVTFTMDGDTMTMLTESTFKNLSVTFKFGEEFDEKTSDGRNVKSVVTKDSESKITQTQKDAKNTTVIVREIVGDTMKTTVTVDDVTAIRNYKRL
UniProt ID: O45035
Variant: N -> S at position 79-79
Variant annotation: in variants D, E and F
Protein function: May play a role in the transport of fatty acids. Binds to various fatty acids but not retinoids.
Reference sequence:
MSSFLGKWKLSETHNFDAVMSKLGVSWPIRQMGNTVTPTVTFTMDGDTMTMLTESTFKNLSVTFKFGEEFDEKTSDGRNVKSVVTKDSESKITQTQKDAKNTTVIVREIVGDTMKTTVTVDDVTAIRNYKRL
UniProt ID: O45035
Variant: E -> D at position 89-89
Variant annotation: in variants D and E
Protein function: May play a role in the transport of fatty acids. Binds to various fatty acids but not retinoids.
Reference sequence:
MSSFLGKWKLSETHNFDAVMSKLGVSWPIRQMGNTVTPTVTFTMDGDTMTMLTESTFKNLSVTFKFGEEFDEKTSDGRNVKSVVTKDSESKITQTQKDAKNTTVIVREIVGDTMKTTVTVDDVTAIRNYKRL
UniProt ID: O45035
Variant: A -> S at position 99-99
Variant annotation: in variants C, D, E, F and H
Protein function: May play a role in the transport of fatty acids. Binds to various fatty acids but not retinoids.
Reference sequence:
MSSFLGKWKLSETHNFDAVMSKLGVSWPIRQMGNTVTPTVTFTMDGDTMTMLTESTFKNLSVTFKFGEEFDEKTSDGRNVKSVVTKDSESKITQTQKDAKNTTVIVREIVGDTMKTTVTVDDVTAIRNYKRL
UniProt ID: O45035
Variant: G -> C at position 111-111
Variant annotation: in variants C, D and E
Protein function: May play a role in the transport of fatty acids. Binds to various fatty acids but not retinoids.
Reference sequence:
MSSFLGKWKLSETHNFDAVMSKLGVSWPIRQMGNTVTPTVTFTMDGDTMTMLTESTFKNLSVTFKFGEEFDEKTSDGRNVKSVVTKDSESKITQTQKDAKNTTVIVREIVGDTMKTTVTVDDVTAIRNYKRL
UniProt ID: O45035
Variant: D -> N at position 121-121
Variant annotation: in variant D
Protein function: May play a role in the transport of fatty acids. Binds to various fatty acids but not retinoids.
Reference sequence:
MSSFLGKWKLSETHNFDAVMSKLGVSWPIRQMGNTVTPTVTFTMDGDTMTMLTESTFKNLSVTFKFGEEFDEKTSDGRNVKSVVTKDSESKITQTQKDAKNTTVIVREIVGDTMKTTVTVDDVTAIRNYKRL
UniProt ID: O45035
Variant: D -> N at position 122-122
Variant annotation: in variants C, D and E
Protein function: May play a role in the transport of fatty acids. Binds to various fatty acids but not retinoids.
Reference sequence:
MSSFLGKWKLSETHNFDAVMSKLGVSWPIRQMGNTVTPTVTFTMDGDTMTMLTESTFKNLSVTFKFGEEFDEKTSDGRNVKSVVTKDSESKITQTQKDAKNTTVIVREIVGDTMKTTVTVDDVTAIRNYKRL
UniProt ID: O45035
Variant: V -> F at position 123-123
Variant annotation: in variant B
Protein function: May play a role in the transport of fatty acids. Binds to various fatty acids but not retinoids.
Reference sequence:
MSSFLGKWKLSETHNFDAVMSKLGVSWPIRQMGNTVTPTVTFTMDGDTMTMLTESTFKNLSVTFKFGEEFDEKTSDGRNVKSVVTKDSESKITQTQKDAKNTTVIVREIVGDTMKTTVTVDDVTAIRNYKRL
UniProt ID: O45035
Variant: R -> Q at position 131-131
Variant annotation: in variants C, D and E
Protein function: May play a role in the transport of fatty acids. Binds to various fatty acids but not retinoids.
Reference sequence:
MSSFLGKWKLSETHNFDAVMSKLGVSWPIRQMGNTVTPTVTFTMDGDTMTMLTESTFKNLSVTFKFGEEFDEKTSDGRNVKSVVTKDSESKITQTQKDAKNTTVIVREIVGDTMKTTVTVDDVTAIRNYKRL
UniProt ID: O46199
Variant: T -> A at position 7-7
Variant annotation: in strain: ZIM56
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKLIKVTLVFSLLALVFVAQTEAQNPIWENWLACNRIGTKALASLLRETIPTVRNLLNCIDFNPPTDIGNSYLSKLKLYYELVKRGALDKTQCLIVPLKESVRLLRPYVKSLETNKCLGE
UniProt ID: O46199
Variant: A -> D at position 14-14
Variant annotation: in strain: M47
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKLIKVTLVFSLLALVFVAQTEAQNPIWENWLACNRIGTKALASLLRETIPTVRNLLNCIDFNPPTDIGNSYLSKLKLYYELVKRGALDKTQCLIVPLKESVRLLRPYVKSLETNKCLGE
UniProt ID: O46199
Variant: T -> L at position 21-21
Variant annotation: in strain: M47
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKLIKVTLVFSLLALVFVAQTEAQNPIWENWLACNRIGTKALASLLRETIPTVRNLLNCIDFNPPTDIGNSYLSKLKLYYELVKRGALDKTQCLIVPLKESVRLLRPYVKSLETNKCLGE
UniProt ID: O46199
Variant: E -> K at position 22-22
Variant annotation: in strain: ZIM26 and ZIM42
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKLIKVTLVFSLLALVFVAQTEAQNPIWENWLACNRIGTKALASLLRETIPTVRNLLNCIDFNPPTDIGNSYLSKLKLYYELVKRGALDKTQCLIVPLKESVRLLRPYVKSLETNKCLGE
UniProt ID: O46199
Variant: I -> V at position 27-27
Variant annotation: in strain: ZIM56
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKLIKVTLVFSLLALVFVAQTEAQNPIWENWLACNRIGTKALASLLRETIPTVRNLLNCIDFNPPTDIGNSYLSKLKLYYELVKRGALDKTQCLIVPLKESVRLLRPYVKSLETNKCLGE
UniProt ID: O46199
Variant: N -> K at position 70-70
Variant annotation: in strain: M09 and WS9
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKLIKVTLVFSLLALVFVAQTEAQNPIWENWLACNRIGTKALASLLRETIPTVRNLLNCIDFNPPTDIGNSYLSKLKLYYELVKRGALDKTQCLIVPLKESVRLLRPYVKSLETNKCLGE
UniProt ID: O46199
Variant: Y -> C at position 72-72
Variant annotation: in strain: SFS 3.1
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKLIKVTLVFSLLALVFVAQTEAQNPIWENWLACNRIGTKALASLLRETIPTVRNLLNCIDFNPPTDIGNSYLSKLKLYYELVKRGALDKTQCLIVPLKESVRLLRPYVKSLETNKCLGE
UniProt ID: O46199
Variant: V -> D at position 83-83
Variant annotation: in strain: ZIM30
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKLIKVTLVFSLLALVFVAQTEAQNPIWENWLACNRIGTKALASLLRETIPTVRNLLNCIDFNPPTDIGNSYLSKLKLYYELVKRGALDKTQCLIVPLKESVRLLRPYVKSLETNKCLGE
UniProt ID: O46199
Variant: Y -> C at position 108-108
Variant annotation: in strain: ZIM2
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKLIKVTLVFSLLALVFVAQTEAQNPIWENWLACNRIGTKALASLLRETIPTVRNLLNCIDFNPPTDIGNSYLSKLKLYYELVKRGALDKTQCLIVPLKESVRLLRPYVKSLETNKCLGE
UniProt ID: O46200
Variant: N -> S at position 39-39
Variant annotation: in strain: SFS 3.4
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKAIIVFILFISSVHAMSKCNQAIYLNLDPHCGILPDCNLDGPNPSYLKRVSCERKENGKPGFIELIPGKCLHGKPRCSLK
UniProt ID: O46200
Variant: K -> N at position 49-49
Variant annotation: in strain: Canton-S, NFS 5.1, NFS 5.2, NFS 5.3, NFS 5.4, NFS 6.1, NFS 6.2, NFS 6.3, NFS 6.4, NFS 7.8, SFS 1.1, SFS 1.2, SFS 1.3, SFS 1.4, SFS 2.2, SFS 2.3, SFS 2.4, SFS 3.1, SFS 3.2, SFS 3.3, SFS 3.4, Zim63H-12C, Zim63H-16C, Zim63H-28C, Zim63H-34C, Zim63I-10C, Zim63I-18C, Zim63I-53C and Zim63I-7C
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKAIIVFILFISSVHAMSKCNQAIYLNLDPHCGILPDCNLDGPNPSYLKRVSCERKENGKPGFIELIPGKCLHGKPRCSLK
UniProt ID: O46200
Variant: L -> V at position 72-72
Variant annotation: in strain: Zim63H-16C, Zim63H-34C and Zim63I-7C
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKAIIVFILFISSVHAMSKCNQAIYLNLDPHCGILPDCNLDGPNPSYLKRVSCERKENGKPGFIELIPGKCLHGKPRCSLK
UniProt ID: O46200
Variant: HG -> MA at position 73-74
Variant annotation: in strain: Zim63H-30C
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKAIIVFILFISSVHAMSKCNQAIYLNLDPHCGILPDCNLDGPNPSYLKRVSCERKENGKPGFIELIPGKCLHGKPRCSLK
UniProt ID: O46200
Variant: H -> Q at position 73-73
Variant annotation: in strain: Zim63H-16C and Zim63H-34C
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKAIIVFILFISSVHAMSKCNQAIYLNLDPHCGILPDCNLDGPNPSYLKRVSCERKENGKPGFIELIPGKCLHGKPRCSLK
UniProt ID: O46200
Variant: K -> E at position 75-75
Variant annotation: in strain: Zim63H-16C
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKAIIVFILFISSVHAMSKCNQAIYLNLDPHCGILPDCNLDGPNPSYLKRVSCERKENGKPGFIELIPGKCLHGKPRCSLK
UniProt ID: O46200
Variant: P -> T at position 76-76
Variant annotation: in strain: Zim63I-7C
Protein function: Responsible for physiological and behavioral changes in mated female flies.
Reference sequence:
MKAIIVFILFISSVHAMSKCNQAIYLNLDPHCGILPDCNLDGPNPSYLKRVSCERKENGKPGFIELIPGKCLHGKPRCSLK
UniProt ID: O46412
Variant: L -> M at position 9-9
Variant annotation: in European red deer
Protein function: Destroys radicals which are normally produced within the cells and which are toxic to biological systems.
Reference sequence:
MATKAVCVLKGDGPVQGTIRFEAKGHTVVVTGSITGLTEGDHGFHVHQFGDNTQGCTSAGPHFNPLSKKHGGPKDEERHVGDLGNVTADKNGVAKVDIVDSLISLSGEHSIIGRTMVVHEKPDDLGRGGNEESTKTGNARNRLACGVIGIAQ
UniProt ID: O46412
Variant: H -> N at position 26-26
Variant annotation: in European red deer
Protein function: Destroys radicals which are normally produced within the cells and which are toxic to biological systems.
Reference sequence:
MATKAVCVLKGDGPVQGTIRFEAKGHTVVVTGSITGLTEGDHGFHVHQFGDNTQGCTSAGPHFNPLSKKHGGPKDEERHVGDLGNVTADKNGVAKVDIVDSLISLSGEHSIIGRTMVVHEKPDDLGRGGNEESTKTGNARNRLACGVIGIAQ
UniProt ID: O46510
Variant: T -> P at position 599-599
Protein function: Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.
Reference sequence:
MGQGLGIKSCDFQAARNNAEHHTNDISSQRLFVRRGQPFTISLHFQAPVHTFLRALKKVALIAQTGKQPSKANGTQATFSVSSLGDRKWWSAMVEERDDQSWTISVTTPADAIIGHYSLLLQISGRKQCLGQFTLLFNPWNREDAVFLGNEAQRKEYLLNQNGLIFLGTADCIQAEPWDFGQLEEDVIDLGLSLLTVDNQVEKWGNPVHVARVLGALLHILKEKSVLPTAKIQTTEERALLNKRRGSAPILRQWVTGHGRPVYEGQAWVLAAVACTVLRGLGIPARVVTTFTSAQGTGGDLLVNEYYNEEGLQNGEDNRGRAWIFQTSTECWMARPDLLEVYDGWQILYPSALKGGEVLEACDLVPVRAVKEGIVWLTPAASDIFASINASCVVWKCGEDGTLELTDSNTKYFGNNISTKNVDCDCHEDITQNYKYPEGSSQEKMVLEKVQKYRMKHKNDGIYPPCCETDDPLHLFLKAPSSLALGKNVEISVNLLNPTDQEKEVQLAIGLQAMYYNGVLAAKLWRKNFVLILSANSAKKISTSLFNSNFEQSLPENSFLRLTAMATHSSLPCFAQQDIAIRRPHLAIEMPETAEQHQTLIALVSIHNPLDVPLEDCVISIFGKGLIHREKSYRVNSVQPRNTLRTQLKFVPMKVGCQRLTVEMDCNMFQNLTNFRTVMVVAPKSPA
UniProt ID: O46510
Variant: I -> M at position 601-601
Protein function: Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.
Reference sequence:
MGQGLGIKSCDFQAARNNAEHHTNDISSQRLFVRRGQPFTISLHFQAPVHTFLRALKKVALIAQTGKQPSKANGTQATFSVSSLGDRKWWSAMVEERDDQSWTISVTTPADAIIGHYSLLLQISGRKQCLGQFTLLFNPWNREDAVFLGNEAQRKEYLLNQNGLIFLGTADCIQAEPWDFGQLEEDVIDLGLSLLTVDNQVEKWGNPVHVARVLGALLHILKEKSVLPTAKIQTTEERALLNKRRGSAPILRQWVTGHGRPVYEGQAWVLAAVACTVLRGLGIPARVVTTFTSAQGTGGDLLVNEYYNEEGLQNGEDNRGRAWIFQTSTECWMARPDLLEVYDGWQILYPSALKGGEVLEACDLVPVRAVKEGIVWLTPAASDIFASINASCVVWKCGEDGTLELTDSNTKYFGNNISTKNVDCDCHEDITQNYKYPEGSSQEKMVLEKVQKYRMKHKNDGIYPPCCETDDPLHLFLKAPSSLALGKNVEISVNLLNPTDQEKEVQLAIGLQAMYYNGVLAAKLWRKNFVLILSANSAKKISTSLFNSNFEQSLPENSFLRLTAMATHSSLPCFAQQDIAIRRPHLAIEMPETAEQHQTLIALVSIHNPLDVPLEDCVISIFGKGLIHREKSYRVNSVQPRNTLRTQLKFVPMKVGCQRLTVEMDCNMFQNLTNFRTVMVVAPKSPA
UniProt ID: O46510
Variant: I -> V at position 627-627
Protein function: Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.
Reference sequence:
MGQGLGIKSCDFQAARNNAEHHTNDISSQRLFVRRGQPFTISLHFQAPVHTFLRALKKVALIAQTGKQPSKANGTQATFSVSSLGDRKWWSAMVEERDDQSWTISVTTPADAIIGHYSLLLQISGRKQCLGQFTLLFNPWNREDAVFLGNEAQRKEYLLNQNGLIFLGTADCIQAEPWDFGQLEEDVIDLGLSLLTVDNQVEKWGNPVHVARVLGALLHILKEKSVLPTAKIQTTEERALLNKRRGSAPILRQWVTGHGRPVYEGQAWVLAAVACTVLRGLGIPARVVTTFTSAQGTGGDLLVNEYYNEEGLQNGEDNRGRAWIFQTSTECWMARPDLLEVYDGWQILYPSALKGGEVLEACDLVPVRAVKEGIVWLTPAASDIFASINASCVVWKCGEDGTLELTDSNTKYFGNNISTKNVDCDCHEDITQNYKYPEGSSQEKMVLEKVQKYRMKHKNDGIYPPCCETDDPLHLFLKAPSSLALGKNVEISVNLLNPTDQEKEVQLAIGLQAMYYNGVLAAKLWRKNFVLILSANSAKKISTSLFNSNFEQSLPENSFLRLTAMATHSSLPCFAQQDIAIRRPHLAIEMPETAEQHQTLIALVSIHNPLDVPLEDCVISIFGKGLIHREKSYRVNSVQPRNTLRTQLKFVPMKVGCQRLTVEMDCNMFQNLTNFRTVMVVAPKSPA
UniProt ID: O46600
Variant: P -> S at position 519-519
Protein function: The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling.
Reference sequence:
MDLWQLLLTLAVAGSSDAFSGSEATPAFLVRASQSLQILYPVLETNSSGNPKFTKCRSPELETFSCHWTDGANHSLQSPGSVQMFYIRRDIQEWKECPDYVSAGENSCYFNSSYTSVWTPYCIKLTSNGGIVDHKCFSVEDIVQPDPPVGLNWTLLNISLTEIHADILVKWEPPPNTDVKMGWIILEYELHYKELNETQWKMMDPLMVTSVPMYSLRLDKEYEVRVRTRQRNTEKYGKFSEVLLITFPQMNPSACEEDFQFPWFLIIIFGILGLAVTLYLLIFSKQQRIKMLILPPVPVPKIKGIDPDLLKEGKLEEVNTILAIHDNYKHEFYNDDSWVEFIELDIDDPDEKTEGSDTDRLLSNDHEKSLNIFGAKDDDSGRTSCYEPDILEADFHVSDMCDGTSEVAQPQRLKGEADISCLDQKNQNNSPSNDAAPASQQPSVILVEENKPRPLLIGGTESTHQAVHTQLSNPSSLANIDFYAQVSDITPAGNVVLSPGQKNKTGNPQCDTHPEVVTPCQANFIVDNAYFCEVDAKKYIALAPHVEAESHVEPSFNQEDIYITTESLTTTAGRSGTAEHVPSSEIPVPDYTSIHIVQSPQGLVLNATALPLPDKEFLSSCGYVSTDQLNKIMP
UniProt ID: O47558
Variant: P -> H at position 154-154
Variant annotation: in strain: Isolate NK 4504
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:
MTNIRKTHPLLKIVNHSLIDLPAPSNISAWWNFGSLLGLCLMIQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWLIRYLHANGASMFFICLYMHVGRGIYYGSYTYLETWNIGIILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFIIAALVMIHLLFLHETGSNNPSGIPSDSDKIPFHPYYTIKDVLGFLM
UniProt ID: O47558
Variant: T -> S at position 203-203
Variant annotation: in strain: Isolate NK 4504
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:
MTNIRKTHPLLKIVNHSLIDLPAPSNISAWWNFGSLLGLCLMIQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWLIRYLHANGASMFFICLYMHVGRGIYYGSYTYLETWNIGIILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFILPFIIAALVMIHLLFLHETGSNNPSGIPSDSDKIPFHPYYTIKDVLGFLM
UniProt ID: O47885
Variant: F -> S at position 7-7
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:
MTHTRKFHPLFKIINKSFIDLPTPSNISTWWNFGSLLGACLITQILTGLFLAMHYTPDTMTAFSSMSHICRDVNYGWIIRQLHSNGASIFFLCLYTHIGRNIYYGSYLYSETWNTGIMLLLITMATAFMGYVLPWGQMSFWGATVITNLFSAIPYIGTNLVEWIWGGFSVDKATLNRFFAFHFILPFTMVALAGVHLTFLHETGSNNPLGLTSDSDKIPFHPYYTIKDFLGLLILILLLLLLALLSPDMLGDPDNYMPADPLNTPLHIKPEWYFLFAYAILRSVPNKLGGVLALFLSILILGLMPLLHTSKHRSMMLRPLSQVLFWTLTMDLLTLTWIGSQPVEHPYIIIGQMASILYFSIILAFLPIAGMIENYLIK
UniProt ID: O47885
Variant: L -> F at position 306-306
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:
MTHTRKFHPLFKIINKSFIDLPTPSNISTWWNFGSLLGACLITQILTGLFLAMHYTPDTMTAFSSMSHICRDVNYGWIIRQLHSNGASIFFLCLYTHIGRNIYYGSYLYSETWNTGIMLLLITMATAFMGYVLPWGQMSFWGATVITNLFSAIPYIGTNLVEWIWGGFSVDKATLNRFFAFHFILPFTMVALAGVHLTFLHETGSNNPLGLTSDSDKIPFHPYYTIKDFLGLLILILLLLLLALLSPDMLGDPDNYMPADPLNTPLHIKPEWYFLFAYAILRSVPNKLGGVLALFLSILILGLMPLLHTSKHRSMMLRPLSQVLFWTLTMDLLTLTWIGSQPVEHPYIIIGQMASILYFSIILAFLPIAGMIENYLIK
UniProt ID: O47885
Variant: H -> Y at position 345-345
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:
MTHTRKFHPLFKIINKSFIDLPTPSNISTWWNFGSLLGACLITQILTGLFLAMHYTPDTMTAFSSMSHICRDVNYGWIIRQLHSNGASIFFLCLYTHIGRNIYYGSYLYSETWNTGIMLLLITMATAFMGYVLPWGQMSFWGATVITNLFSAIPYIGTNLVEWIWGGFSVDKATLNRFFAFHFILPFTMVALAGVHLTFLHETGSNNPLGLTSDSDKIPFHPYYTIKDFLGLLILILLLLLLALLSPDMLGDPDNYMPADPLNTPLHIKPEWYFLFAYAILRSVPNKLGGVLALFLSILILGLMPLLHTSKHRSMMLRPLSQVLFWTLTMDLLTLTWIGSQPVEHPYIIIGQMASILYFSIILAFLPIAGMIENYLIK
UniProt ID: O47885
Variant: I -> T at position 348-348
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:
MTHTRKFHPLFKIINKSFIDLPTPSNISTWWNFGSLLGACLITQILTGLFLAMHYTPDTMTAFSSMSHICRDVNYGWIIRQLHSNGASIFFLCLYTHIGRNIYYGSYLYSETWNTGIMLLLITMATAFMGYVLPWGQMSFWGATVITNLFSAIPYIGTNLVEWIWGGFSVDKATLNRFFAFHFILPFTMVALAGVHLTFLHETGSNNPLGLTSDSDKIPFHPYYTIKDFLGLLILILLLLLLALLSPDMLGDPDNYMPADPLNTPLHIKPEWYFLFAYAILRSVPNKLGGVLALFLSILILGLMPLLHTSKHRSMMLRPLSQVLFWTLTMDLLTLTWIGSQPVEHPYIIIGQMASILYFSIILAFLPIAGMIENYLIK
UniProt ID: O48052
Variant: M -> I at position 260-260
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:
MPHQQILMLFGLVPVATNISTWWNFGSMLLTCSVLQVLTGFFLAVHYTANINLAFSSIIHITRDVPYGWLMQNLHAIGASMFFICIYIHIARGLYYGSYLNKETWLSGTTLLIMLMATAFFGYVLPWGQMSFWAATVITNLLTAIPYLGNTMTTWLWGGFAINDPTLTRFFALHFILPFGIISLSSLHIMLLHEEGSSNPLGTNSDIDKIPFHPYHTYKDLLMLTMMTMLLLMIVSFFPDIFNDPDNFSKANPLVTPQHMKPEWYFLFAYGILRSIPNKLGGALALTMSIMILLTVPFTHTSKMRSMMFRPFMQLTFWTFTATFLVITWTATKPVEPPFTTISQVAALMYFLFFIFNPIMGWMENKIMKYN
UniProt ID: O48052
Variant: F -> S at position 356-356
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:
MPHQQILMLFGLVPVATNISTWWNFGSMLLTCSVLQVLTGFFLAVHYTANINLAFSSIIHITRDVPYGWLMQNLHAIGASMFFICIYIHIARGLYYGSYLNKETWLSGTTLLIMLMATAFFGYVLPWGQMSFWAATVITNLLTAIPYLGNTMTTWLWGGFAINDPTLTRFFALHFILPFGIISLSSLHIMLLHEEGSSNPLGTNSDIDKIPFHPYHTYKDLLMLTMMTMLLLMIVSFFPDIFNDPDNFSKANPLVTPQHMKPEWYFLFAYGILRSIPNKLGGALALTMSIMILLTVPFTHTSKMRSMMFRPFMQLTFWTFTATFLVITWTATKPVEPPFTTISQVAALMYFLFFIFNPIMGWMENKIMKYN
UniProt ID: O48052
Variant: I -> M at position 367-367
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:
MPHQQILMLFGLVPVATNISTWWNFGSMLLTCSVLQVLTGFFLAVHYTANINLAFSSIIHITRDVPYGWLMQNLHAIGASMFFICIYIHIARGLYYGSYLNKETWLSGTTLLIMLMATAFFGYVLPWGQMSFWAATVITNLLTAIPYLGNTMTTWLWGGFAINDPTLTRFFALHFILPFGIISLSSLHIMLLHEEGSSNPLGTNSDIDKIPFHPYHTYKDLLMLTMMTMLLLMIVSFFPDIFNDPDNFSKANPLVTPQHMKPEWYFLFAYGILRSIPNKLGGALALTMSIMILLTVPFTHTSKMRSMMFRPFMQLTFWTFTATFLVITWTATKPVEPPFTTISQVAALMYFLFFIFNPIMGWMENKIMKYN
UniProt ID: O48080
Variant: N -> D at position 73-73
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:
MPHQQMLILFGLLPVATNISTWWNFGSMLLACSSMQVLTGFFLAVHYTANINLAFSSIVHITRDVPYGWMMQNLHAIGASMFFICIYIHIARGLYYGSYLNKKTWLSGTTLLIMLMATAFFGYVLPWGQMSFWAATVITNLLTAIPYLGTTMTTWLWGGFAINDPTLTRFFALHFILPFGIISLSSLHIMLLHEDGSSNPLGTNSDIDKIPFHPYHTYKDLLMLSLMVLMLLMTVSFLPDIFNDPENFSKANPLVTPQHIKPEWYFLFAYGILRSIPNKLWGALALAMSITILLTVPFTHTSTIRSMMFRPIMQLMFWTLVATFMVITWAATKPVEPPFTMISQIASTIYFLFLIMNPIAGWIENNILKYN
UniProt ID: O48080
Variant: T -> M at position 234-234
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:
MPHQQMLILFGLLPVATNISTWWNFGSMLLACSSMQVLTGFFLAVHYTANINLAFSSIVHITRDVPYGWMMQNLHAIGASMFFICIYIHIARGLYYGSYLNKKTWLSGTTLLIMLMATAFFGYVLPWGQMSFWAATVITNLLTAIPYLGTTMTTWLWGGFAINDPTLTRFFALHFILPFGIISLSSLHIMLLHEDGSSNPLGTNSDIDKIPFHPYHTYKDLLMLSLMVLMLLMTVSFLPDIFNDPENFSKANPLVTPQHIKPEWYFLFAYGILRSIPNKLWGALALAMSITILLTVPFTHTSTIRSMMFRPIMQLMFWTLVATFMVITWAATKPVEPPFTMISQIASTIYFLFLIMNPIAGWIENNILKYN