sujigwak/NVAR huggingface dataset:
UniProt ID: Q59465
Variant: V -> I at position 228-228
Variant annotation: in strain: 69A
Protein function: Couples the hydrolysis of ATP with the transport of cadmium, zinc and cobalt out of the cell. This ion efflux may influence the activity of urease, which is essential for the survival of the bacterium in the gastric environment.
Reference sequence:
MQEYHIHNLDCPDCASKLERDLNELDYVKKAQINFSTSKLFLDTSDFEKVKAFIKQNEPHLSLSFKEATEKPLSFTPLIITIMVFLGAILILHLNPSPLIEKAMFFVLALVYLVSGKDVILGAFRGLRKGQFFDENALMLIATIAAFFVGAYEESVSIMVFYSAGEFLQKLAVSRSKKSLKALVDVAPNLAYLKKGDELVSVAPEDLRVNDIVVVKVGEKVPVDGVVVKGESLLDERALSGESMPVNVSENSKVLGGSLNLKAVLEIQVEKMYKDSSIAKVVDLVQQATNEKSETEKFITKFSRYYTPSVLFIALMIAVLPPLFSMGSFDEWIYRGLVALMVSCPCALVISVPLGYFGGVGAASRKGILMKGVHVLEVLTQAKSIAFDKTGTLTKGVFKVTDIVPQNGHSKEEVLHYASCSQLLSTHPIALSIQKACEEMLKDDKHQHDIKNYEEVSGMGVKAQCHTDLIIAGNEKMLDQFHIAHSPSKENGTIVHVAFNQTYVGYIVISDEIKDDAIECLRDLKVQGIENFCILSGDRKSATESIAQTLGCEYHASLLPEEKTSVFKTFKERYKAPAIFVGDGINDAPTLASADVGIGMGKGSELSKQSADIVITNDSLNSLVKVLAIAKKTKSIIWQNILFALGIKAVFIVLGLMGVASLWEAVFGDVGVTLLALANSMRAMRA
UniProt ID: Q59465
Variant: N -> R at position 251-251
Variant annotation: in strain: 69A
Protein function: Couples the hydrolysis of ATP with the transport of cadmium, zinc and cobalt out of the cell. This ion efflux may influence the activity of urease, which is essential for the survival of the bacterium in the gastric environment.
Reference sequence:
MQEYHIHNLDCPDCASKLERDLNELDYVKKAQINFSTSKLFLDTSDFEKVKAFIKQNEPHLSLSFKEATEKPLSFTPLIITIMVFLGAILILHLNPSPLIEKAMFFVLALVYLVSGKDVILGAFRGLRKGQFFDENALMLIATIAAFFVGAYEESVSIMVFYSAGEFLQKLAVSRSKKSLKALVDVAPNLAYLKKGDELVSVAPEDLRVNDIVVVKVGEKVPVDGVVVKGESLLDERALSGESMPVNVSENSKVLGGSLNLKAVLEIQVEKMYKDSSIAKVVDLVQQATNEKSETEKFITKFSRYYTPSVLFIALMIAVLPPLFSMGSFDEWIYRGLVALMVSCPCALVISVPLGYFGGVGAASRKGILMKGVHVLEVLTQAKSIAFDKTGTLTKGVFKVTDIVPQNGHSKEEVLHYASCSQLLSTHPIALSIQKACEEMLKDDKHQHDIKNYEEVSGMGVKAQCHTDLIIAGNEKMLDQFHIAHSPSKENGTIVHVAFNQTYVGYIVISDEIKDDAIECLRDLKVQGIENFCILSGDRKSATESIAQTLGCEYHASLLPEEKTSVFKTFKERYKAPAIFVGDGINDAPTLASADVGIGMGKGSELSKQSADIVITNDSLNSLVKVLAIAKKTKSIIWQNILFALGIKAVFIVLGLMGVASLWEAVFGDVGVTLLALANSMRAMRA
UniProt ID: Q59465
Variant: K -> E at position 435-435
Variant annotation: in strain: 69A
Protein function: Couples the hydrolysis of ATP with the transport of cadmium, zinc and cobalt out of the cell. This ion efflux may influence the activity of urease, which is essential for the survival of the bacterium in the gastric environment.
Reference sequence:
MQEYHIHNLDCPDCASKLERDLNELDYVKKAQINFSTSKLFLDTSDFEKVKAFIKQNEPHLSLSFKEATEKPLSFTPLIITIMVFLGAILILHLNPSPLIEKAMFFVLALVYLVSGKDVILGAFRGLRKGQFFDENALMLIATIAAFFVGAYEESVSIMVFYSAGEFLQKLAVSRSKKSLKALVDVAPNLAYLKKGDELVSVAPEDLRVNDIVVVKVGEKVPVDGVVVKGESLLDERALSGESMPVNVSENSKVLGGSLNLKAVLEIQVEKMYKDSSIAKVVDLVQQATNEKSETEKFITKFSRYYTPSVLFIALMIAVLPPLFSMGSFDEWIYRGLVALMVSCPCALVISVPLGYFGGVGAASRKGILMKGVHVLEVLTQAKSIAFDKTGTLTKGVFKVTDIVPQNGHSKEEVLHYASCSQLLSTHPIALSIQKACEEMLKDDKHQHDIKNYEEVSGMGVKAQCHTDLIIAGNEKMLDQFHIAHSPSKENGTIVHVAFNQTYVGYIVISDEIKDDAIECLRDLKVQGIENFCILSGDRKSATESIAQTLGCEYHASLLPEEKTSVFKTFKERYKAPAIFVGDGINDAPTLASADVGIGMGKGSELSKQSADIVITNDSLNSLVKVLAIAKKTKSIIWQNILFALGIKAVFIVLGLMGVASLWEAVFGDVGVTLLALANSMRAMRA
UniProt ID: Q59465
Variant: V -> L at position 456-456
Variant annotation: in strain: 69A
Protein function: Couples the hydrolysis of ATP with the transport of cadmium, zinc and cobalt out of the cell. This ion efflux may influence the activity of urease, which is essential for the survival of the bacterium in the gastric environment.
Reference sequence:
MQEYHIHNLDCPDCASKLERDLNELDYVKKAQINFSTSKLFLDTSDFEKVKAFIKQNEPHLSLSFKEATEKPLSFTPLIITIMVFLGAILILHLNPSPLIEKAMFFVLALVYLVSGKDVILGAFRGLRKGQFFDENALMLIATIAAFFVGAYEESVSIMVFYSAGEFLQKLAVSRSKKSLKALVDVAPNLAYLKKGDELVSVAPEDLRVNDIVVVKVGEKVPVDGVVVKGESLLDERALSGESMPVNVSENSKVLGGSLNLKAVLEIQVEKMYKDSSIAKVVDLVQQATNEKSETEKFITKFSRYYTPSVLFIALMIAVLPPLFSMGSFDEWIYRGLVALMVSCPCALVISVPLGYFGGVGAASRKGILMKGVHVLEVLTQAKSIAFDKTGTLTKGVFKVTDIVPQNGHSKEEVLHYASCSQLLSTHPIALSIQKACEEMLKDDKHQHDIKNYEEVSGMGVKAQCHTDLIIAGNEKMLDQFHIAHSPSKENGTIVHVAFNQTYVGYIVISDEIKDDAIECLRDLKVQGIENFCILSGDRKSATESIAQTLGCEYHASLLPEEKTSVFKTFKERYKAPAIFVGDGINDAPTLASADVGIGMGKGSELSKQSADIVITNDSLNSLVKVLAIAKKTKSIIWQNILFALGIKAVFIVLGLMGVASLWEAVFGDVGVTLLALANSMRAMRA
UniProt ID: Q59465
Variant: V -> I at position 504-504
Variant annotation: in strain: 69A
Protein function: Couples the hydrolysis of ATP with the transport of cadmium, zinc and cobalt out of the cell. This ion efflux may influence the activity of urease, which is essential for the survival of the bacterium in the gastric environment.
Reference sequence:
MQEYHIHNLDCPDCASKLERDLNELDYVKKAQINFSTSKLFLDTSDFEKVKAFIKQNEPHLSLSFKEATEKPLSFTPLIITIMVFLGAILILHLNPSPLIEKAMFFVLALVYLVSGKDVILGAFRGLRKGQFFDENALMLIATIAAFFVGAYEESVSIMVFYSAGEFLQKLAVSRSKKSLKALVDVAPNLAYLKKGDELVSVAPEDLRVNDIVVVKVGEKVPVDGVVVKGESLLDERALSGESMPVNVSENSKVLGGSLNLKAVLEIQVEKMYKDSSIAKVVDLVQQATNEKSETEKFITKFSRYYTPSVLFIALMIAVLPPLFSMGSFDEWIYRGLVALMVSCPCALVISVPLGYFGGVGAASRKGILMKGVHVLEVLTQAKSIAFDKTGTLTKGVFKVTDIVPQNGHSKEEVLHYASCSQLLSTHPIALSIQKACEEMLKDDKHQHDIKNYEEVSGMGVKAQCHTDLIIAGNEKMLDQFHIAHSPSKENGTIVHVAFNQTYVGYIVISDEIKDDAIECLRDLKVQGIENFCILSGDRKSATESIAQTLGCEYHASLLPEEKTSVFKTFKERYKAPAIFVGDGINDAPTLASADVGIGMGKGSELSKQSADIVITNDSLNSLVKVLAIAKKTKSIIWQNILFALGIKAVFIVLGLMGVASLWEAVFGDVGVTLLALANSMRAMRA
UniProt ID: Q59465
Variant: V -> A at position 526-526
Variant annotation: in strain: 69A
Protein function: Couples the hydrolysis of ATP with the transport of cadmium, zinc and cobalt out of the cell. This ion efflux may influence the activity of urease, which is essential for the survival of the bacterium in the gastric environment.
Reference sequence:
MQEYHIHNLDCPDCASKLERDLNELDYVKKAQINFSTSKLFLDTSDFEKVKAFIKQNEPHLSLSFKEATEKPLSFTPLIITIMVFLGAILILHLNPSPLIEKAMFFVLALVYLVSGKDVILGAFRGLRKGQFFDENALMLIATIAAFFVGAYEESVSIMVFYSAGEFLQKLAVSRSKKSLKALVDVAPNLAYLKKGDELVSVAPEDLRVNDIVVVKVGEKVPVDGVVVKGESLLDERALSGESMPVNVSENSKVLGGSLNLKAVLEIQVEKMYKDSSIAKVVDLVQQATNEKSETEKFITKFSRYYTPSVLFIALMIAVLPPLFSMGSFDEWIYRGLVALMVSCPCALVISVPLGYFGGVGAASRKGILMKGVHVLEVLTQAKSIAFDKTGTLTKGVFKVTDIVPQNGHSKEEVLHYASCSQLLSTHPIALSIQKACEEMLKDDKHQHDIKNYEEVSGMGVKAQCHTDLIIAGNEKMLDQFHIAHSPSKENGTIVHVAFNQTYVGYIVISDEIKDDAIECLRDLKVQGIENFCILSGDRKSATESIAQTLGCEYHASLLPEEKTSVFKTFKERYKAPAIFVGDGINDAPTLASADVGIGMGKGSELSKQSADIVITNDSLNSLVKVLAIAKKTKSIIWQNILFALGIKAVFIVLGLMGVASLWEAVFGDVGVTLLALANSMRAMRA
UniProt ID: Q59465
Variant: H -> Y at position 555-555
Variant annotation: in strain: 69A
Protein function: Couples the hydrolysis of ATP with the transport of cadmium, zinc and cobalt out of the cell. This ion efflux may influence the activity of urease, which is essential for the survival of the bacterium in the gastric environment.
Reference sequence:
MQEYHIHNLDCPDCASKLERDLNELDYVKKAQINFSTSKLFLDTSDFEKVKAFIKQNEPHLSLSFKEATEKPLSFTPLIITIMVFLGAILILHLNPSPLIEKAMFFVLALVYLVSGKDVILGAFRGLRKGQFFDENALMLIATIAAFFVGAYEESVSIMVFYSAGEFLQKLAVSRSKKSLKALVDVAPNLAYLKKGDELVSVAPEDLRVNDIVVVKVGEKVPVDGVVVKGESLLDERALSGESMPVNVSENSKVLGGSLNLKAVLEIQVEKMYKDSSIAKVVDLVQQATNEKSETEKFITKFSRYYTPSVLFIALMIAVLPPLFSMGSFDEWIYRGLVALMVSCPCALVISVPLGYFGGVGAASRKGILMKGVHVLEVLTQAKSIAFDKTGTLTKGVFKVTDIVPQNGHSKEEVLHYASCSQLLSTHPIALSIQKACEEMLKDDKHQHDIKNYEEVSGMGVKAQCHTDLIIAGNEKMLDQFHIAHSPSKENGTIVHVAFNQTYVGYIVISDEIKDDAIECLRDLKVQGIENFCILSGDRKSATESIAQTLGCEYHASLLPEEKTSVFKTFKERYKAPAIFVGDGINDAPTLASADVGIGMGKGSELSKQSADIVITNDSLNSLVKVLAIAKKTKSIIWQNILFALGIKAVFIVLGLMGVASLWEAVFGDVGVTLLALANSMRAMRA
UniProt ID: Q59619
Variant: F -> L at position 42-42
Variant annotation: in strain: Vedros M1801
Protein function: Can catalyze the hydrolysis of ATP in the presence of single-stranded DNA, the ATP-dependent uptake of single-stranded DNA by duplex DNA, and the ATP-dependent hybridization of homologous single-stranded DNAs. It interacts with LexA causing its activation and leading to its autocatalytic cleavage.
Reference sequence:
SIMKMDGSQQEENLDVISTGSLGVDLALGVGGLPRGRVVEIFGPESSGKTTLCLEAIAQCQKNGGICAFIDAEHAFDPIYARKLGVKVEELYLSQPDTGEQALEICDTLVRSGGVDMVVVDSVAALVPKAEIEGEMGDSHVGLQARLMSQALRKLTGHIKRTNTLVVFINQIRMKIGVMFGSPETTTGGNALKFYASVRLDIRRTGQIKKGDDVIGNETKVKVIKNKVAPPFRQAEFDILYGEGVSWEGELIDLGVKYDIVEKSGAWYSYNGAK
UniProt ID: Q59619
Variant: K -> N at position 49-49
Variant annotation: in strain: Vedros M1801
Protein function: Can catalyze the hydrolysis of ATP in the presence of single-stranded DNA, the ATP-dependent uptake of single-stranded DNA by duplex DNA, and the ATP-dependent hybridization of homologous single-stranded DNAs. It interacts with LexA causing its activation and leading to its autocatalytic cleavage.
Reference sequence:
SIMKMDGSQQEENLDVISTGSLGVDLALGVGGLPRGRVVEIFGPESSGKTTLCLEAIAQCQKNGGICAFIDAEHAFDPIYARKLGVKVEELYLSQPDTGEQALEICDTLVRSGGVDMVVVDSVAALVPKAEIEGEMGDSHVGLQARLMSQALRKLTGHIKRTNTLVVFINQIRMKIGVMFGSPETTTGGNALKFYASVRLDIRRTGQIKKGDDVIGNETKVKVIKNKVAPPFRQAEFDILYGEGVSWEGELIDLGVKYDIVEKSGAWYSYNGAK
UniProt ID: Q59619
Variant: V -> I at position 115-115
Variant annotation: in strain: Vedros M1801
Protein function: Can catalyze the hydrolysis of ATP in the presence of single-stranded DNA, the ATP-dependent uptake of single-stranded DNA by duplex DNA, and the ATP-dependent hybridization of homologous single-stranded DNAs. It interacts with LexA causing its activation and leading to its autocatalytic cleavage.
Reference sequence:
SIMKMDGSQQEENLDVISTGSLGVDLALGVGGLPRGRVVEIFGPESSGKTTLCLEAIAQCQKNGGICAFIDAEHAFDPIYARKLGVKVEELYLSQPDTGEQALEICDTLVRSGGVDMVVVDSVAALVPKAEIEGEMGDSHVGLQARLMSQALRKLTGHIKRTNTLVVFINQIRMKIGVMFGSPETTTGGNALKFYASVRLDIRRTGQIKKGDDVIGNETKVKVIKNKVAPPFRQAEFDILYGEGVSWEGELIDLGVKYDIVEKSGAWYSYNGAK
UniProt ID: Q59619
Variant: V -> I at position 245-245
Variant annotation: in strain: Vedros M1801
Protein function: Can catalyze the hydrolysis of ATP in the presence of single-stranded DNA, the ATP-dependent uptake of single-stranded DNA by duplex DNA, and the ATP-dependent hybridization of homologous single-stranded DNAs. It interacts with LexA causing its activation and leading to its autocatalytic cleavage.
Reference sequence:
SIMKMDGSQQEENLDVISTGSLGVDLALGVGGLPRGRVVEIFGPESSGKTTLCLEAIAQCQKNGGICAFIDAEHAFDPIYARKLGVKVEELYLSQPDTGEQALEICDTLVRSGGVDMVVVDSVAALVPKAEIEGEMGDSHVGLQARLMSQALRKLTGHIKRTNTLVVFINQIRMKIGVMFGSPETTTGGNALKFYASVRLDIRRTGQIKKGDDVIGNETKVKVIKNKVAPPFRQAEFDILYGEGVSWEGELIDLGVKYDIVEKSGAWYSYNGAK
UniProt ID: Q59622
Variant: S -> P at position 549-549
Variant annotation: rifampicin resistant
Protein function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.
Reference sequence:
MNYSFTEKKRIRKSFAKRENVLEVPFLLATQIDSYAKFLQLENAFDKRTDDGLQAAFNSIFPIVSHNGYARLEFVHYTLGEPLFDIPECQLRGITYAAPLRARIRLVILDKEASKPTVKEVRENEVYMGEIPLMTPSGSFVINGTERVIVSQLHRSPGVFFEHDKGKTHSSGKLLFSARIIPYRGSWLDFEFDPKDLLYFRIDRRRKMPVTILLKALGYNNEQILDIFYDKETFYLSSNGVQTDLVADRLKGETAKVDILDKEGNVLVAKGKRITAKNIRDITNAGLTRLDVEPESLLGKALAADLIDSETGEVLASANDEITEELLAKFDINGVKEITTLYINELDQGAYISNTLRTDETAGRQAARVAIYRMMRPGEPPTEEAVEQLFNRLFFSEDSYDLSRVGRMKFNTRTYEQKLSEAQQNSWYGRLLNETFAGAADKGGYVLSVEDIVASIATLVELRNGHGEVDDIDHLGNRRVRSVGELTENQFRSGLARVERAVKERLNQAESENLMPHDLINAKPVSAAIKEFFGSSQLSQFMDQTNPLSEVTHKRRVSALGPGGLTRERAGFEVRDVHPTHYGRVCPIETPEGPNIGLINSLSVYARTNDYGFLETPYRRVIDGKVTEEIDYLSAIEEGRYVIAQANADLDSDGNLIGDLVTCREKGETIMATPDRVQYMDVATGQVVSVAASLIPFLEHDDANRALMGANMQRQAVPCLRPEKPMVGTGIERSVAVDSATAIVARRGGVVEYVDANRVVIRVHDDEATAGEVGVDIYNLVKFTRSNQSTNINQRPAVKAGDVLQRGDLVADGASTDFGELALGQNMTIAFMPWNGYNYEDSILISEKVAADDRYTSIHIEELNVVARDTKLGAEDITRDIPNLSERMQNRLDESGIVYIGAEVEAGDVLVGKVTPKGETQLTPEEKLLRAIFGEKASDVKDTSLRMPTGMSGTVIDVQVFTREGIQRDKRAQSIIDSELKRYRLDLNDQLRIFDNDAFDRIERMIVGQKANGGPMKLAKGSEITTEYLAGLPSRHDWFDIRLTDEDLAKQLELIKVSLQQKREEADELYEIKKKKLTQGDELQPGVQKMVKVFIAIKRRLQAGDKMAGRHGNKGVVSRILPVEDMPYMADGRPVDIVLNPLGVPSRMNIGQILEVHLGWAAKGIGERIDRMLKEQRKAGELREFLNRLYNGSGKKEDLDALTDEEIIELASNLRKGASFASPVFDGAKESEIREMLNLAYPSDDPEVEKLGFNDSKTQITLYDGRSGEAFDRKVTVGVMHYLKLHHLVDEKMHARSTGPYSLVTQQPLGGKAQFGGQRFGEMEVWALEAYGAAYTLQEMLTVKSDDVNGRTKMYENIVKGEHKIDAGMPESFNVLVKEIRSLGLDIDLERY
UniProt ID: Q59A32
Variant: K -> E at position 771-771
Protein function: Trifunctional enzyme that catalyzes three distinct reactions as part of the 'de novo' inosine monophosphate biosynthetic pathway.
Reference sequence:
MAARVLVIGNGGREHTLAWKLAQSTHVKQVLVTPGNAGTACSEKISNTDISISDHTALAQFCKDEKIEFVVVGPEAPLAAGIVGNLNSVGVRCFGPTAQAAQLESSKRFAKEFMDRHGISTARWRAFTKPKEACDFIMSADFPALVVKASGLAAGKGVIVAKSKEEACEAVREIMQGKAFGEAGETVVIEELLEGEEVSCLCFTDGRTVAPMPPAQDHKRLLEGDEGPNTGGMGAYCPAPQVSKDLLLKIKNNILQRTVDGMQEEGMPYTGVLYAGIMLTKNGPKVLEFNCRFGDPECQVILPLLKSDLYEVIQSILDGLLCTSLPVWLDNCAAVTVVMASKGYPGDYTKGVEITGFPEAQALGLEVFQAGTALKDGKVVTNGGRVLTVTAIRENLISALEEARKGLAAIKFEGAVYRKDIGFRAIAFLQQPRGLTYKESGVDIAAGNMLVQKIKPLAKATSRPGCDVDLGGFAGLFDLKAAGFTDPLLACGTDGVGTKLKIAQQCSKHDTIGQDLVAMCVNDILAQGAEPLFFLDYFSCGKLDLRTTEAVITGIAKACKKAGCALLGGETAEMPDMYPPGEYDLAGFAVGAMERDQKLPQLERITEGDAVIGIASSGLHSNGFSLVRKIVAKSSLEYSSPAPGGCGDQTLGDLLLTPTKIYSRSLLPVLRSGRVKAVAHITGGGLLENIPRVLPQKLGVNLDAQTWRVPRIFSWLQQEGHLSEEEMARTFNCGIGAALVVSEDLVKQTLQDIEQHQEEACVIGRVVACPKGSPRVKVEHLIETMQINGSVLENGTLRNHFSVQPKKARVAVLISGTGSNLQALIDSTREPSSLAHIVIVISNKAAVAGLDKAEKAGIPTRVINHKLYKNRAAFDTAIDEVLEEFSTDIVCLAGFMRILSGPFVRKWNGKMLNIHPSLLPSFKGSNAHEQVLDAGVTVTGCTVHFVAEDVDAGQIILQEAVPVKRGDTVETLSERVKLAEHKIFPSALQLVASGAVRLGENGRICWVTED
UniProt ID: Q59H18
Variant: D -> H at position 151-151
Variant annotation: in dbSNP:rs34874695
Protein function: May play a role in cardiac physiology.
Reference sequence:
MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTELRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRNGFTALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANVNIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVGDRPLHLASAKGFLNIAKLLMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHLACYNGKFEVAKEIIQISGTESLTKENIFSETAFHSACTYGKSIDLVKFLLDQNVININHQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEKGHDAIVTLLKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRAGLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSKSDVDMFCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLIIAVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEMKRSLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS
UniProt ID: Q59H18
Variant: P -> L at position 263-263
Variant annotation: in dbSNP:rs34521608
Protein function: May play a role in cardiac physiology.
Reference sequence:
MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTELRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRNGFTALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANVNIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVGDRPLHLASAKGFLNIAKLLMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHLACYNGKFEVAKEIIQISGTESLTKENIFSETAFHSACTYGKSIDLVKFLLDQNVININHQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEKGHDAIVTLLKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRAGLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSKSDVDMFCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLIIAVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEMKRSLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS
UniProt ID: Q59H18
Variant: F -> L at position 309-309
Protein function: May play a role in cardiac physiology.
Reference sequence:
MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTELRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRNGFTALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANVNIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVGDRPLHLASAKGFLNIAKLLMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHLACYNGKFEVAKEIIQISGTESLTKENIFSETAFHSACTYGKSIDLVKFLLDQNVININHQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEKGHDAIVTLLKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRAGLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSKSDVDMFCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLIIAVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEMKRSLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS
UniProt ID: Q59H18
Variant: S -> L at position 430-430
Variant annotation: in a colorectal adenocarcinoma sample; somatic mutation
Protein function: May play a role in cardiac physiology.
Reference sequence:
MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTELRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRNGFTALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANVNIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVGDRPLHLASAKGFLNIAKLLMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHLACYNGKFEVAKEIIQISGTESLTKENIFSETAFHSACTYGKSIDLVKFLLDQNVININHQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEKGHDAIVTLLKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRAGLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSKSDVDMFCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLIIAVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEMKRSLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS
UniProt ID: Q59H18
Variant: V -> L at position 510-510
Variant annotation: decreased autophosphorylation; dbSNP:rs34335537
Protein function: May play a role in cardiac physiology.
Reference sequence:
MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTELRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRNGFTALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANVNIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVGDRPLHLASAKGFLNIAKLLMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHLACYNGKFEVAKEIIQISGTESLTKENIFSETAFHSACTYGKSIDLVKFLLDQNVININHQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEKGHDAIVTLLKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRAGLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSKSDVDMFCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLIIAVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEMKRSLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS
UniProt ID: Q59H18
Variant: S -> P at position 511-511
Variant annotation: found in a consaguineous family with autosomal recessive cardiac conduction disease; uncertain significance; no effect on phosphorylation
Protein function: May play a role in cardiac physiology.
Reference sequence:
MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTELRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRNGFTALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANVNIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVGDRPLHLASAKGFLNIAKLLMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHLACYNGKFEVAKEIIQISGTESLTKENIFSETAFHSACTYGKSIDLVKFLLDQNVININHQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEKGHDAIVTLLKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRAGLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSKSDVDMFCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLIIAVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEMKRSLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS
UniProt ID: Q59H18
Variant: I -> T at position 512-512
Variant annotation: in CCDD; uncertain significance; increased autophosphorylation; dbSNP:rs2100520576
Protein function: May play a role in cardiac physiology.
Reference sequence:
MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTELRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRNGFTALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANVNIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVGDRPLHLASAKGFLNIAKLLMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHLACYNGKFEVAKEIIQISGTESLTKENIFSETAFHSACTYGKSIDLVKFLLDQNVININHQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEKGHDAIVTLLKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRAGLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSKSDVDMFCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLIIAVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEMKRSLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS
UniProt ID: Q59H18
Variant: G -> D at position 526-526
Variant annotation: in CCDD; pathogenic; the mutation results in decreased protein solubility; causes abnormal aggregation; markedly reduced protein expression is observed in the sarcoplasm and nuclei of patient cardiomyocytes; severely reduced autophosphorylation; dbSNP:rs606231469
Protein function: May play a role in cardiac physiology.
Reference sequence:
MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTELRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRNGFTALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANVNIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVGDRPLHLASAKGFLNIAKLLMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHLACYNGKFEVAKEIIQISGTESLTKENIFSETAFHSACTYGKSIDLVKFLLDQNVININHQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEKGHDAIVTLLKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRAGLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSKSDVDMFCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLIIAVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEMKRSLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS
UniProt ID: Q59H18
Variant: T -> A at position 539-539
Variant annotation: in CCDD; uncertain significance; dbSNP:rs1662479663
Protein function: May play a role in cardiac physiology.
Reference sequence:
MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTELRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRNGFTALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANVNIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVGDRPLHLASAKGFLNIAKLLMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHLACYNGKFEVAKEIIQISGTESLTKENIFSETAFHSACTYGKSIDLVKFLLDQNVININHQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEKGHDAIVTLLKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRAGLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSKSDVDMFCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLIIAVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEMKRSLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS
UniProt ID: Q59H18
Variant: L -> F at position 577-577
Variant annotation: in CCDD; likely pathogenic; severely decreased autophosphorylation; dbSNP:rs201010209
Protein function: May play a role in cardiac physiology.
Reference sequence:
MGNYKSRPTQTCTDEWKKKVSESYVITIERLEDDLQIKEKELTELRNIFGSDEAFSKVNLNYRTENGLSLLHLCCICGGKKSHIRTLMLKGLRPSRLTRNGFTALHLAVYKDNAELITSLLHSGADIQQVGYGGLTALHIATIAGHLEAADVLLQHGANVNIQDAVFFTPLHIAAYYGHEQVTRLLLKFGADVNVSGEVGDRPLHLASAKGFLNIAKLLMEEGSKADVNAQDNEDHVPLHFCSRFGHHDIVKYLLQSDLEVQPHVVNIYGDTPLHLACYNGKFEVAKEIIQISGTESLTKENIFSETAFHSACTYGKSIDLVKFLLDQNVININHQGRDGHTGLHSACYHGHIRLVQFLLDNGADMNLVACDPSRSSGEKDEQTCLMWAYEKGHDAIVTLLKHYKRPQDELPCNEYSQPGGDGSYVSVPSPLGKIKSMTKEKADILLLRAGLPSHFHLQLSEIEFHEIIGSGSFGKVYKGRCRNKIVAIKRYRANTYCSKSDVDMFCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGSLFSLLHEQKRILDLQSKLIIAVDVAKGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKPAAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHVAALRSRFELEYALNARSYAALSQSAGQYSSQGLSLEEMKRSLQYTPIDKYGYVSDPMSSMHFHSCRNSSSFEDSS