sujigwak/NVAR huggingface dataset:
UniProt ID: P36382
Variant: L -> M at position 229-229
Variant annotation: in ATFB11; dbSNP:rs387906615
Protein function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Reference sequence:
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVLQIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIRTTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVKPRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV
UniProt ID: P36404
Variant: R -> L at position 15-15
Variant annotation: in MRCS1; decreased interaction with UNC119; decreased interaction with ARL2BP; changed cellular respiration; decreased ATP production
Protein function: Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Regulates formation of new microtubules and centrosome integrity. Prevents the TBCD-induced microtubule destruction. Participates in association with TBCD, in the disassembly of the apical junction complexes. Antagonizes the effect of TBCD on epithelial cell detachment and tight and adherens junctions disassembly. Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. Component of a regulated secretory pathway involved in Ca(2+)-dependent release of acetylcholine. Required for normal progress through the cell cycle . Also regulates mitochondrial integrity and function .
Reference sequence:
MGLLTILKKMKQKERELRLLMLGLDNAGKTTILKKFNGEDIDTISPTLGFNIKTLEHRGFKLNIWDVGGQKSLRSYWRNYFESTDGLIWVVDSADRQRMQDCQRELQSLLVEERLAGATLLIFANKQDLPGALSSNAIREVLELDSIRSHHWCIQGCSAVTGENLLPGIDWLLDDISSRIFTAD
UniProt ID: P36404
Variant: V -> A at position 141-141
Variant annotation: in dbSNP:rs664226
Protein function: Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Regulates formation of new microtubules and centrosome integrity. Prevents the TBCD-induced microtubule destruction. Participates in association with TBCD, in the disassembly of the apical junction complexes. Antagonizes the effect of TBCD on epithelial cell detachment and tight and adherens junctions disassembly. Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. Component of a regulated secretory pathway involved in Ca(2+)-dependent release of acetylcholine. Required for normal progress through the cell cycle . Also regulates mitochondrial integrity and function .
Reference sequence:
MGLLTILKKMKQKERELRLLMLGLDNAGKTTILKKFNGEDIDTISPTLGFNIKTLEHRGFKLNIWDVGGQKSLRSYWRNYFESTDGLIWVVDSADRQRMQDCQRELQSLLVEERLAGATLLIFANKQDLPGALSSNAIREVLELDSIRSHHWCIQGCSAVTGENLLPGIDWLLDDISSRIFTAD
UniProt ID: P36406
Variant: D -> N at position 480-480
Variant annotation: in dbSNP:rs34046496
Protein function: (Microbial infection) Mediates TRAF6 auto-ubiquitination in the presence of human cytomegalovirus protein UL144, resulting in the virally controlled activation of NF-kappa-B stimulation at early times of HCMV infection.
Reference sequence:
MATLVVNKLGAGVDSGRQGSRGTAVVKVLECGVCEDVFSLQGDKVPRLLLCGHTVCHDCLTRLPLHGRAIRCPFDRQVTDLGDSGVWGLKKNFALLELLERLQNGPIGQYGAAEESIGISGESIIRCDEDEAHLASVYCTVCATHLCSECSQVTHSTKTLAKHRRVPLADKPHEKTMCSQHQVHAIEFVCLEEGCQTSPLMCCVCKEYGKHQGHKHSVLEPEANQIRASILDMAHCIRTFTEEISDYSRKLVGIVQHIEGGEQIVEDGIGMAHTEHVPGTAENARSCIRAYFYDLHETLCRQEEMALSVVDAHVREKLIWLRQQQEDMTILLSEVSAACLHCEKTLQQDDCRVVLAKQEITRLLETLQKQQQQFTEVADHIQLDASIPVTFTKDNRVHIGPKMEIRVVTLGLDGAGKTTILFKLKQDEFMQPIPTIGFNVETVEYKNLKFTIWDVGGKHKLRPLWKHYYLNTQAVVFVVDSSHRDRISEAHSELAKLLTEKELRDALLLIFANKQDVAGALSVEEITELLSLHKLCCGRSWYIQGCDARSGMGLYEGLDWLSRQLVAAGVLDVA
UniProt ID: P36426
Variant: G -> S at position 33-33
Variant annotation: in strain: E/UW-5/Cx
Protein function: Negative regulator of class I heat shock genes (grpE-dnaK-dnaJ and groELS operons). Prevents heat-shock induction of these operons.
Reference sequence:
MENRIEMSQLRASKKDSKISYVLLMATKLYLEGGQPVGSKLLKETYCSDLSSATIRNYFAQLETDGFLRKNHISGGRIPTDLAFRYYADHNAPFLEQEEILAIQQKLTELPEYSKNIVKDLQKASEVLSDILQLPVCFSSPRFESDSVINIQLVAIDDQRVVFVLSTEFGQVFTDVLWLPEQLPENSLKRIEGFLQNYLRKQPSDSLLSQKEKDLGMVLYNEVVVRYLTRYCHFSEEDLYQTGLSRLLKYETFKDPETLAQGLAFFENRKHMCQLLNTYLHKETPTAFIGRELTDIVGNTDPSCAVITIPYYMDRTPLGAFGVLGPMNLPYQQVFGTLSLFTERLKVILTQSFYKFKLSFRRPCPTDPRCSQRPAELTRSSSIKLLPAKELS
UniProt ID: P36426
Variant: K -> E at position 213-213
Variant annotation: in strain: E/UW-5/Cx
Protein function: Negative regulator of class I heat shock genes (grpE-dnaK-dnaJ and groELS operons). Prevents heat-shock induction of these operons.
Reference sequence:
MENRIEMSQLRASKKDSKISYVLLMATKLYLEGGQPVGSKLLKETYCSDLSSATIRNYFAQLETDGFLRKNHISGGRIPTDLAFRYYADHNAPFLEQEEILAIQQKLTELPEYSKNIVKDLQKASEVLSDILQLPVCFSSPRFESDSVINIQLVAIDDQRVVFVLSTEFGQVFTDVLWLPEQLPENSLKRIEGFLQNYLRKQPSDSLLSQKEKDLGMVLYNEVVVRYLTRYCHFSEEDLYQTGLSRLLKYETFKDPETLAQGLAFFENRKHMCQLLNTYLHKETPTAFIGRELTDIVGNTDPSCAVITIPYYMDRTPLGAFGVLGPMNLPYQQVFGTLSLFTERLKVILTQSFYKFKLSFRRPCPTDPRCSQRPAELTRSSSIKLLPAKELS
UniProt ID: P36426
Variant: A -> T at position 320-320
Variant annotation: in strain: E/UW-5/Cx
Protein function: Negative regulator of class I heat shock genes (grpE-dnaK-dnaJ and groELS operons). Prevents heat-shock induction of these operons.
Reference sequence:
MENRIEMSQLRASKKDSKISYVLLMATKLYLEGGQPVGSKLLKETYCSDLSSATIRNYFAQLETDGFLRKNHISGGRIPTDLAFRYYADHNAPFLEQEEILAIQQKLTELPEYSKNIVKDLQKASEVLSDILQLPVCFSSPRFESDSVINIQLVAIDDQRVVFVLSTEFGQVFTDVLWLPEQLPENSLKRIEGFLQNYLRKQPSDSLLSQKEKDLGMVLYNEVVVRYLTRYCHFSEEDLYQTGLSRLLKYETFKDPETLAQGLAFFENRKHMCQLLNTYLHKETPTAFIGRELTDIVGNTDPSCAVITIPYYMDRTPLGAFGVLGPMNLPYQQVFGTLSLFTERLKVILTQSFYKFKLSFRRPCPTDPRCSQRPAELTRSSSIKLLPAKELS
UniProt ID: P36495
Variant: L -> V at position 580-580
Variant annotation: in strain: CC-503
Protein function: Essential for cell growth. May be involved in binding chloroplast DNA to either the chloroplast envelope or the thylakoid membrane.
Reference sequence:
MITFTFMSLVTSVKDYVEITHKLIEIEPLKNYTEFGAVFTYFIFSIGEFFKNFFSFSFLNNIWSIPIIIPDIASAMISEVSVLDGYFHNAFTFLETSVNTTTNPSLVIFEKFVIGIINSLFLILPTSTSHLITLRRFVMQGLEAGYMAGLGTLAGNFLWLASIILGWRFFVIPWLSLDIFRYLLGFVLLVKYIWDSSKERRMALEDLSKWKIFLLNFLLALTEQSCIYPFISNLSFGPDASILEGFPVDNYPQFLLIHGAYLLGILFGSFSLLQFTCWFWENPAFSIYLWITTKSSLKISTSSYYKILNFTFLYATMLCAIASIPYYGLDYTITNPIGLVPQDRILNQKKSQSDPDKLITETAFLNLNPTDKNSRIRDGVHARRERWKQRLIKYQAFDASTYDQGVYDFLTIEDLNYGFDRFWLRRKMRNHQIRFRLFPGPWMRSLKKQLNNPANPSLETSTKAASGPRVEFFRILFEQFYHPNFHDRAAMQTNPAEARNKFISTSPLASTESKKALNSTFSLGNINNSSTGIEGLVLTNTQATLLPTDLQTKRTIKPGLIYTNSALRKFVRNVNTRLNLKLLNSKETNLTTKYKSQFIYSKRWKSIFSKIQPLQNGTTRKSYQLFRNVAKQILVTPDAKSLKLITINQKLSLKERKLLELRTQYNNNSTLTTTAPLTLVRPLNVYLQKEEAFKRKLRYYGTMPMRKLTVGNQAPYFKALMKRGFYYYKPTLRWRKTLYVASLRRGFRKKSRKQRILVMPSNQQNFNNTLDNTKTNINQNNLANPLGGNEVPMYGADGENSLITKPTHSYTVLGKRASRYRHQIYKDVLQHWYYTPFNRLLMKFDVDAFINRQPKSHFLTKNEERALHIRRFLLSEHYDTLRWYTYMQHYKTMKTNIGGTKSFANRAYNQQFQGTFKKIRHLFAITPKQGDFYTLKFDQPLYNDNKLKDNLYFHEELLTDYYNGTNLQTNQTSNISVNSTTTFIDNSLRTTQLPVPSSSFDIVNQSSTLIGLTTMQNALRKNVVESTLTSLNSDGEAATSQPKLNFVYSELFVKLIKECKKRIHDQTFLKNYITHRIEKREQLNQEQTKELNKRLEKLKVWLNSDKGSISKLQNTPVQDPNISSPDKVLTTAMQKAVNESISLSGIMPSDKIKTTYGNLTNAYTIKTENAILTKLNVINQLTNNETTTQKNTLIKSIGVNKIQTVLQTIITNFKSSLYNQTQLLRVKTDKDLQWWRTKQRVITKRKSARKRDRFKKQIAVVNKKLAALSKKVETEKSNLYQTLYGNYEISDYLLRNVPTGSSAVIDSTVLRKKQDNQAYLPKETNNVQFNSFVDSNNNVWQTFFAKKLRKKISSKGRRYRSLSLARYLTATRKPRLVGLDNLTKIDNITTLQGAFITKEEKQDSLNLTIQRKQELTNSLKKSQIKKRSRHSWKKRSRHQFSRNHYKYRKRHTHGNGKLRVMNKKLKKFKATNELRQWWWNSFLPRYLSNLQVNNSTLTNKNVSFKPLSNTNSVPSTNMASPTTSRNLLDNLNSSNQISTSASMNQNIVTESVKVETNQVYLPEGEKSFDITSMTTTLPFYAGWDESLKKFVVTNRLLSRRDAGLSVNNNPQEINFTNPPIQGLNEGSFLYWQTEMPFNSYNIDQFITTNQSFYAPLGWRRFEFRHSILKTWVNNTKAGNNNIKKKTLIISLKNLQPLKSSQQKQNQIKTKKLVARRIKKRYKLLKQMPNQLMYSPTGPLLTEVLPSHYISVFDQQYRLPRNRYLKRNPLKTLKKTTLLALMDSSKQTNGVNKEFTLRKRVKPRRKYHRKRFIKKDGLIFPRRTKFNTNTTLTGNALITNNVNSIEEDDLRWRPSSRTKQKRKDNTRSSAASKTKSNKRVKTNPLRLRQLRRREFQQVLKPLQRYIPQNGGFTWPGDYLRLEIVEMPKLKSINIKKTSLKQKINVQPVGIMPRKYLIEKHNIKVLKKKLSQAYSTQQLTKVVQEYKNLIQNSPPAI
UniProt ID: P36495
Variant: K -> R at position 1588-1588
Variant annotation: in strain: CC-503 and cw15
Protein function: Essential for cell growth. May be involved in binding chloroplast DNA to either the chloroplast envelope or the thylakoid membrane.
Reference sequence:
MITFTFMSLVTSVKDYVEITHKLIEIEPLKNYTEFGAVFTYFIFSIGEFFKNFFSFSFLNNIWSIPIIIPDIASAMISEVSVLDGYFHNAFTFLETSVNTTTNPSLVIFEKFVIGIINSLFLILPTSTSHLITLRRFVMQGLEAGYMAGLGTLAGNFLWLASIILGWRFFVIPWLSLDIFRYLLGFVLLVKYIWDSSKERRMALEDLSKWKIFLLNFLLALTEQSCIYPFISNLSFGPDASILEGFPVDNYPQFLLIHGAYLLGILFGSFSLLQFTCWFWENPAFSIYLWITTKSSLKISTSSYYKILNFTFLYATMLCAIASIPYYGLDYTITNPIGLVPQDRILNQKKSQSDPDKLITETAFLNLNPTDKNSRIRDGVHARRERWKQRLIKYQAFDASTYDQGVYDFLTIEDLNYGFDRFWLRRKMRNHQIRFRLFPGPWMRSLKKQLNNPANPSLETSTKAASGPRVEFFRILFEQFYHPNFHDRAAMQTNPAEARNKFISTSPLASTESKKALNSTFSLGNINNSSTGIEGLVLTNTQATLLPTDLQTKRTIKPGLIYTNSALRKFVRNVNTRLNLKLLNSKETNLTTKYKSQFIYSKRWKSIFSKIQPLQNGTTRKSYQLFRNVAKQILVTPDAKSLKLITINQKLSLKERKLLELRTQYNNNSTLTTTAPLTLVRPLNVYLQKEEAFKRKLRYYGTMPMRKLTVGNQAPYFKALMKRGFYYYKPTLRWRKTLYVASLRRGFRKKSRKQRILVMPSNQQNFNNTLDNTKTNINQNNLANPLGGNEVPMYGADGENSLITKPTHSYTVLGKRASRYRHQIYKDVLQHWYYTPFNRLLMKFDVDAFINRQPKSHFLTKNEERALHIRRFLLSEHYDTLRWYTYMQHYKTMKTNIGGTKSFANRAYNQQFQGTFKKIRHLFAITPKQGDFYTLKFDQPLYNDNKLKDNLYFHEELLTDYYNGTNLQTNQTSNISVNSTTTFIDNSLRTTQLPVPSSSFDIVNQSSTLIGLTTMQNALRKNVVESTLTSLNSDGEAATSQPKLNFVYSELFVKLIKECKKRIHDQTFLKNYITHRIEKREQLNQEQTKELNKRLEKLKVWLNSDKGSISKLQNTPVQDPNISSPDKVLTTAMQKAVNESISLSGIMPSDKIKTTYGNLTNAYTIKTENAILTKLNVINQLTNNETTTQKNTLIKSIGVNKIQTVLQTIITNFKSSLYNQTQLLRVKTDKDLQWWRTKQRVITKRKSARKRDRFKKQIAVVNKKLAALSKKVETEKSNLYQTLYGNYEISDYLLRNVPTGSSAVIDSTVLRKKQDNQAYLPKETNNVQFNSFVDSNNNVWQTFFAKKLRKKISSKGRRYRSLSLARYLTATRKPRLVGLDNLTKIDNITTLQGAFITKEEKQDSLNLTIQRKQELTNSLKKSQIKKRSRHSWKKRSRHQFSRNHYKYRKRHTHGNGKLRVMNKKLKKFKATNELRQWWWNSFLPRYLSNLQVNNSTLTNKNVSFKPLSNTNSVPSTNMASPTTSRNLLDNLNSSNQISTSASMNQNIVTESVKVETNQVYLPEGEKSFDITSMTTTLPFYAGWDESLKKFVVTNRLLSRRDAGLSVNNNPQEINFTNPPIQGLNEGSFLYWQTEMPFNSYNIDQFITTNQSFYAPLGWRRFEFRHSILKTWVNNTKAGNNNIKKKTLIISLKNLQPLKSSQQKQNQIKTKKLVARRIKKRYKLLKQMPNQLMYSPTGPLLTEVLPSHYISVFDQQYRLPRNRYLKRNPLKTLKKTTLLALMDSSKQTNGVNKEFTLRKRVKPRRKYHRKRFIKKDGLIFPRRTKFNTNTTLTGNALITNNVNSIEEDDLRWRPSSRTKQKRKDNTRSSAASKTKSNKRVKTNPLRLRQLRRREFQQVLKPLQRYIPQNGGFTWPGDYLRLEIVEMPKLKSINIKKTSLKQKINVQPVGIMPRKYLIEKHNIKVLKKKLSQAYSTQQLTKVVQEYKNLIQNSPPAI
UniProt ID: P36495
Variant: P -> A at position 1610-1610
Variant annotation: in strain: CC-503
Protein function: Essential for cell growth. May be involved in binding chloroplast DNA to either the chloroplast envelope or the thylakoid membrane.
Reference sequence:
MITFTFMSLVTSVKDYVEITHKLIEIEPLKNYTEFGAVFTYFIFSIGEFFKNFFSFSFLNNIWSIPIIIPDIASAMISEVSVLDGYFHNAFTFLETSVNTTTNPSLVIFEKFVIGIINSLFLILPTSTSHLITLRRFVMQGLEAGYMAGLGTLAGNFLWLASIILGWRFFVIPWLSLDIFRYLLGFVLLVKYIWDSSKERRMALEDLSKWKIFLLNFLLALTEQSCIYPFISNLSFGPDASILEGFPVDNYPQFLLIHGAYLLGILFGSFSLLQFTCWFWENPAFSIYLWITTKSSLKISTSSYYKILNFTFLYATMLCAIASIPYYGLDYTITNPIGLVPQDRILNQKKSQSDPDKLITETAFLNLNPTDKNSRIRDGVHARRERWKQRLIKYQAFDASTYDQGVYDFLTIEDLNYGFDRFWLRRKMRNHQIRFRLFPGPWMRSLKKQLNNPANPSLETSTKAASGPRVEFFRILFEQFYHPNFHDRAAMQTNPAEARNKFISTSPLASTESKKALNSTFSLGNINNSSTGIEGLVLTNTQATLLPTDLQTKRTIKPGLIYTNSALRKFVRNVNTRLNLKLLNSKETNLTTKYKSQFIYSKRWKSIFSKIQPLQNGTTRKSYQLFRNVAKQILVTPDAKSLKLITINQKLSLKERKLLELRTQYNNNSTLTTTAPLTLVRPLNVYLQKEEAFKRKLRYYGTMPMRKLTVGNQAPYFKALMKRGFYYYKPTLRWRKTLYVASLRRGFRKKSRKQRILVMPSNQQNFNNTLDNTKTNINQNNLANPLGGNEVPMYGADGENSLITKPTHSYTVLGKRASRYRHQIYKDVLQHWYYTPFNRLLMKFDVDAFINRQPKSHFLTKNEERALHIRRFLLSEHYDTLRWYTYMQHYKTMKTNIGGTKSFANRAYNQQFQGTFKKIRHLFAITPKQGDFYTLKFDQPLYNDNKLKDNLYFHEELLTDYYNGTNLQTNQTSNISVNSTTTFIDNSLRTTQLPVPSSSFDIVNQSSTLIGLTTMQNALRKNVVESTLTSLNSDGEAATSQPKLNFVYSELFVKLIKECKKRIHDQTFLKNYITHRIEKREQLNQEQTKELNKRLEKLKVWLNSDKGSISKLQNTPVQDPNISSPDKVLTTAMQKAVNESISLSGIMPSDKIKTTYGNLTNAYTIKTENAILTKLNVINQLTNNETTTQKNTLIKSIGVNKIQTVLQTIITNFKSSLYNQTQLLRVKTDKDLQWWRTKQRVITKRKSARKRDRFKKQIAVVNKKLAALSKKVETEKSNLYQTLYGNYEISDYLLRNVPTGSSAVIDSTVLRKKQDNQAYLPKETNNVQFNSFVDSNNNVWQTFFAKKLRKKISSKGRRYRSLSLARYLTATRKPRLVGLDNLTKIDNITTLQGAFITKEEKQDSLNLTIQRKQELTNSLKKSQIKKRSRHSWKKRSRHQFSRNHYKYRKRHTHGNGKLRVMNKKLKKFKATNELRQWWWNSFLPRYLSNLQVNNSTLTNKNVSFKPLSNTNSVPSTNMASPTTSRNLLDNLNSSNQISTSASMNQNIVTESVKVETNQVYLPEGEKSFDITSMTTTLPFYAGWDESLKKFVVTNRLLSRRDAGLSVNNNPQEINFTNPPIQGLNEGSFLYWQTEMPFNSYNIDQFITTNQSFYAPLGWRRFEFRHSILKTWVNNTKAGNNNIKKKTLIISLKNLQPLKSSQQKQNQIKTKKLVARRIKKRYKLLKQMPNQLMYSPTGPLLTEVLPSHYISVFDQQYRLPRNRYLKRNPLKTLKKTTLLALMDSSKQTNGVNKEFTLRKRVKPRRKYHRKRFIKKDGLIFPRRTKFNTNTTLTGNALITNNVNSIEEDDLRWRPSSRTKQKRKDNTRSSAASKTKSNKRVKTNPLRLRQLRRREFQQVLKPLQRYIPQNGGFTWPGDYLRLEIVEMPKLKSINIKKTSLKQKINVQPVGIMPRKYLIEKHNIKVLKKKLSQAYSTQQLTKVVQEYKNLIQNSPPAI
UniProt ID: P36495
Variant: P -> A at position 1618-1618
Variant annotation: in strain: CC-503
Protein function: Essential for cell growth. May be involved in binding chloroplast DNA to either the chloroplast envelope or the thylakoid membrane.
Reference sequence:
MITFTFMSLVTSVKDYVEITHKLIEIEPLKNYTEFGAVFTYFIFSIGEFFKNFFSFSFLNNIWSIPIIIPDIASAMISEVSVLDGYFHNAFTFLETSVNTTTNPSLVIFEKFVIGIINSLFLILPTSTSHLITLRRFVMQGLEAGYMAGLGTLAGNFLWLASIILGWRFFVIPWLSLDIFRYLLGFVLLVKYIWDSSKERRMALEDLSKWKIFLLNFLLALTEQSCIYPFISNLSFGPDASILEGFPVDNYPQFLLIHGAYLLGILFGSFSLLQFTCWFWENPAFSIYLWITTKSSLKISTSSYYKILNFTFLYATMLCAIASIPYYGLDYTITNPIGLVPQDRILNQKKSQSDPDKLITETAFLNLNPTDKNSRIRDGVHARRERWKQRLIKYQAFDASTYDQGVYDFLTIEDLNYGFDRFWLRRKMRNHQIRFRLFPGPWMRSLKKQLNNPANPSLETSTKAASGPRVEFFRILFEQFYHPNFHDRAAMQTNPAEARNKFISTSPLASTESKKALNSTFSLGNINNSSTGIEGLVLTNTQATLLPTDLQTKRTIKPGLIYTNSALRKFVRNVNTRLNLKLLNSKETNLTTKYKSQFIYSKRWKSIFSKIQPLQNGTTRKSYQLFRNVAKQILVTPDAKSLKLITINQKLSLKERKLLELRTQYNNNSTLTTTAPLTLVRPLNVYLQKEEAFKRKLRYYGTMPMRKLTVGNQAPYFKALMKRGFYYYKPTLRWRKTLYVASLRRGFRKKSRKQRILVMPSNQQNFNNTLDNTKTNINQNNLANPLGGNEVPMYGADGENSLITKPTHSYTVLGKRASRYRHQIYKDVLQHWYYTPFNRLLMKFDVDAFINRQPKSHFLTKNEERALHIRRFLLSEHYDTLRWYTYMQHYKTMKTNIGGTKSFANRAYNQQFQGTFKKIRHLFAITPKQGDFYTLKFDQPLYNDNKLKDNLYFHEELLTDYYNGTNLQTNQTSNISVNSTTTFIDNSLRTTQLPVPSSSFDIVNQSSTLIGLTTMQNALRKNVVESTLTSLNSDGEAATSQPKLNFVYSELFVKLIKECKKRIHDQTFLKNYITHRIEKREQLNQEQTKELNKRLEKLKVWLNSDKGSISKLQNTPVQDPNISSPDKVLTTAMQKAVNESISLSGIMPSDKIKTTYGNLTNAYTIKTENAILTKLNVINQLTNNETTTQKNTLIKSIGVNKIQTVLQTIITNFKSSLYNQTQLLRVKTDKDLQWWRTKQRVITKRKSARKRDRFKKQIAVVNKKLAALSKKVETEKSNLYQTLYGNYEISDYLLRNVPTGSSAVIDSTVLRKKQDNQAYLPKETNNVQFNSFVDSNNNVWQTFFAKKLRKKISSKGRRYRSLSLARYLTATRKPRLVGLDNLTKIDNITTLQGAFITKEEKQDSLNLTIQRKQELTNSLKKSQIKKRSRHSWKKRSRHQFSRNHYKYRKRHTHGNGKLRVMNKKLKKFKATNELRQWWWNSFLPRYLSNLQVNNSTLTNKNVSFKPLSNTNSVPSTNMASPTTSRNLLDNLNSSNQISTSASMNQNIVTESVKVETNQVYLPEGEKSFDITSMTTTLPFYAGWDESLKKFVVTNRLLSRRDAGLSVNNNPQEINFTNPPIQGLNEGSFLYWQTEMPFNSYNIDQFITTNQSFYAPLGWRRFEFRHSILKTWVNNTKAGNNNIKKKTLIISLKNLQPLKSSQQKQNQIKTKKLVARRIKKRYKLLKQMPNQLMYSPTGPLLTEVLPSHYISVFDQQYRLPRNRYLKRNPLKTLKKTTLLALMDSSKQTNGVNKEFTLRKRVKPRRKYHRKRFIKKDGLIFPRRTKFNTNTTLTGNALITNNVNSIEEDDLRWRPSSRTKQKRKDNTRSSAASKTKSNKRVKTNPLRLRQLRRREFQQVLKPLQRYIPQNGGFTWPGDYLRLEIVEMPKLKSINIKKTSLKQKINVQPVGIMPRKYLIEKHNIKVLKKKLSQAYSTQQLTKVVQEYKNLIQNSPPAI
UniProt ID: P36508
Variant: T -> M at position 48-48
Variant annotation: in dbSNP:rs2228265
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MESLGLHTVTLSDGTTAYVQQAVKGEKLLEGQVIQLEDGTTAYIHQVTVQKEALSFEDGQPVQLEDGSMAYIHRTPREGYDPSTLEAVQLEDGSTAYIHHPVAVPSESTILAVQTEVGLEDLAAEDDEGFSADAVVALEQYASKVLHDSQIPRNGKGQQVGDRAFRCGYKGCGRLYTTAHHLKVHERAHTGDRPYRCDFPSCGKAFATGYGLKSHVRTHTGEKPYKCPEELCSKAFKTSGDLQKHVRTHTGERPFQCPFEGCGRSFTTSNIRKVHVRTHTGERPYTCPEPHCGRGFTSATNYKNHVRIHTGEKPYVCTVPGCGKRFTEYSSLYKHHVVHTHCKPYTCSTCGKTYRQTSTLAMHKRSAHGELEATEESEQALYEQQQLEAASAAEESPPPKRPRIAYLSEVKEERDDIPAQVAMVTEEDGAPQVALITQDGAQQVSLSPEDLQALGSAISMVTQHGSTTLTIPSPDADLATSGTHTVTMVSADGTQTQPVTIITSGAVVAEDSSVASLRHQQVALLATANGTHIAVQLEEQQTLEEAINVATAAMQQGAVTLETTVSESGC
UniProt ID: P36508
Variant: R -> C at position 272-272
Variant annotation: in dbSNP:rs33959228
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MESLGLHTVTLSDGTTAYVQQAVKGEKLLEGQVIQLEDGTTAYIHQVTVQKEALSFEDGQPVQLEDGSMAYIHRTPREGYDPSTLEAVQLEDGSTAYIHHPVAVPSESTILAVQTEVGLEDLAAEDDEGFSADAVVALEQYASKVLHDSQIPRNGKGQQVGDRAFRCGYKGCGRLYTTAHHLKVHERAHTGDRPYRCDFPSCGKAFATGYGLKSHVRTHTGEKPYKCPEELCSKAFKTSGDLQKHVRTHTGERPFQCPFEGCGRSFTTSNIRKVHVRTHTGERPYTCPEPHCGRGFTSATNYKNHVRIHTGEKPYVCTVPGCGKRFTEYSSLYKHHVVHTHCKPYTCSTCGKTYRQTSTLAMHKRSAHGELEATEESEQALYEQQQLEAASAAEESPPPKRPRIAYLSEVKEERDDIPAQVAMVTEEDGAPQVALITQDGAQQVSLSPEDLQALGSAISMVTQHGSTTLTIPSPDADLATSGTHTVTMVSADGTQTQPVTIITSGAVVAEDSSVASLRHQQVALLATANGTHIAVQLEEQQTLEEAINVATAAMQQGAVTLETTVSESGC
UniProt ID: P36508
Variant: R -> Q at position 403-403
Variant annotation: in dbSNP:rs35582935
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MESLGLHTVTLSDGTTAYVQQAVKGEKLLEGQVIQLEDGTTAYIHQVTVQKEALSFEDGQPVQLEDGSMAYIHRTPREGYDPSTLEAVQLEDGSTAYIHHPVAVPSESTILAVQTEVGLEDLAAEDDEGFSADAVVALEQYASKVLHDSQIPRNGKGQQVGDRAFRCGYKGCGRLYTTAHHLKVHERAHTGDRPYRCDFPSCGKAFATGYGLKSHVRTHTGEKPYKCPEELCSKAFKTSGDLQKHVRTHTGERPFQCPFEGCGRSFTTSNIRKVHVRTHTGERPYTCPEPHCGRGFTSATNYKNHVRIHTGEKPYVCTVPGCGKRFTEYSSLYKHHVVHTHCKPYTCSTCGKTYRQTSTLAMHKRSAHGELEATEESEQALYEQQQLEAASAAEESPPPKRPRIAYLSEVKEERDDIPAQVAMVTEEDGAPQVALITQDGAQQVSLSPEDLQALGSAISMVTQHGSTTLTIPSPDADLATSGTHTVTMVSADGTQTQPVTIITSGAVVAEDSSVASLRHQQVALLATANGTHIAVQLEEQQTLEEAINVATAAMQQGAVTLETTVSESGC
UniProt ID: P36551
Variant: V -> A at position 135-135
Variant annotation: in HCP; dbSNP:rs201826432
Protein function: Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway.
Reference sequence:
MALQLGRLSSGPCWLVARGGCGGPRAWSQCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAAALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQAQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCAMGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCDDYFFIAHRGERRGIGGIFFDDLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRYVEFNLLYDRGTKFGLFTPGSRIESILMSLPLTARWEYMHSPSENSKEAEILEVLRHPRDWVR
UniProt ID: P36551
Variant: G -> S at position 189-189
Variant annotation: in HCP; <5% of activity; dbSNP:rs759347283
Protein function: Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway.
Reference sequence:
MALQLGRLSSGPCWLVARGGCGGPRAWSQCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAAALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQAQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCAMGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCDDYFFIAHRGERRGIGGIFFDDLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRYVEFNLLYDRGTKFGLFTPGSRIESILMSLPLTARWEYMHSPSENSKEAEILEVLRHPRDWVR
UniProt ID: P36551
Variant: G -> W at position 197-197
Variant annotation: in HCP
Protein function: Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway.
Reference sequence:
MALQLGRLSSGPCWLVARGGCGGPRAWSQCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAAALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQAQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCAMGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCDDYFFIAHRGERRGIGGIFFDDLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRYVEFNLLYDRGTKFGLFTPGSRIESILMSLPLTARWEYMHSPSENSKEAEILEVLRHPRDWVR
UniProt ID: P36551
Variant: E -> K at position 201-201
Variant annotation: in HCP; dbSNP:rs1374394802
Protein function: Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway.
Reference sequence:
MALQLGRLSSGPCWLVARGGCGGPRAWSQCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAAALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQAQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCAMGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCDDYFFIAHRGERRGIGGIFFDDLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRYVEFNLLYDRGTKFGLFTPGSRIESILMSLPLTARWEYMHSPSENSKEAEILEVLRHPRDWVR
UniProt ID: P36551
Variant: S -> F at position 208-208
Variant annotation: in HCP; dbSNP:rs121917872
Protein function: Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway.
Reference sequence:
MALQLGRLSSGPCWLVARGGCGGPRAWSQCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAAALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQAQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCAMGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCDDYFFIAHRGERRGIGGIFFDDLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRYVEFNLLYDRGTKFGLFTPGSRIESILMSLPLTARWEYMHSPSENSKEAEILEVLRHPRDWVR
UniProt ID: P36551
Variant: L -> R at position 214-214
Variant annotation: in HCP
Protein function: Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway.
Reference sequence:
MALQLGRLSSGPCWLVARGGCGGPRAWSQCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAAALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQAQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCAMGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCDDYFFIAHRGERRGIGGIFFDDLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRYVEFNLLYDRGTKFGLFTPGSRIESILMSLPLTARWEYMHSPSENSKEAEILEVLRHPRDWVR
UniProt ID: P36551
Variant: P -> R at position 249-249
Variant annotation: in HCP
Protein function: Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway.
Reference sequence:
MALQLGRLSSGPCWLVARGGCGGPRAWSQCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAAALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQAQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCAMGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCDDYFFIAHRGERRGIGGIFFDDLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRYVEFNLLYDRGTKFGLFTPGSRIESILMSLPLTARWEYMHSPSENSKEAEILEVLRHPRDWVR
UniProt ID: P36551
Variant: P -> S at position 249-249
Variant annotation: in HCP; dbSNP:rs1707462390
Protein function: Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway.
Reference sequence:
MALQLGRLSSGPCWLVARGGCGGPRAWSQCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSRGLGHGSTSRGGPWVGTGLAAALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEEDELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQAQVCQALAQVDGGANFSVDRWERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCAMGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPDLYPKFKKWCDDYFFIAHRGERRGIGGIFFDDLDSPSKEEVFRFVQSCARAVVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRYVEFNLLYDRGTKFGLFTPGSRIESILMSLPLTARWEYMHSPSENSKEAEILEVLRHPRDWVR