Paralogue Annotation for KCNQ1 residue 299

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 299
Reference Amino Acid: Y - Tyrosine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 299

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ4Y270HDeafness, autosomal dominant 2High9 22420747

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.



KCNQ1IFSSYFVYLAEKDAVN-----ESGRVEFGS>Y<ADALWWGVVTVTTIGYGDKVPQTWVGKTIA329
KCNQ2ILASFLVYLAEKGE----------NDHFDT>Y<ADALWWGLITLTTIGYGDKYPQTWNGRLLA294
KCNQ3ILSSFLVYLVEKDVPEVDAQGEEMKEEFET>Y<ADALWWGLITLATIGYGDKTPKTWEGRLIA333
KCNQ4IFASFLVYLAEKDA----------NSDFSS>Y<ADSLWWGTITLTTIGYGDKTPHTWLGRVLA300
KCNQ5IFSSFLVYLVEKDA----------NKEFST>Y<ADALWWGTITLTTIGYGDKTPLTWLGRLLS328
KCNA1ILFSSAVYFAEAEE---------AESHFSS>I<PDAFWWAVVSMTTVGYGDMYPVTIGGKIVG389
KCNA10ILFSSAVYFAEVDE---------PESHFSS>I<PDGFWWAVVTMTTVGYGDMCPTTPGGKIVG438
KCNA2ILFSSAVYFAEADE---------RESQFPS>I<PDAFWWAVVSMTTVGYGDMVPTTIGGKIVG391
KCNA3ILFSSAVYFAEADD---------PTSGFSS>I<PDAFWWAVVTMTTVGYGDMHPVTIGGKIVG461
KCNA4ILFSSAVYFAEADE---------PTTHFQS>I<PDAFWWAVVTMTTVGYGDMKPITVGGKIVG541
KCNA5ILFSSAVYFAEADN---------QGTHFSS>I<PDAFWWAVVTMTTVGYGDMRPITVGGKIVG497
KCNA6ILFSSAVYFAEADD---------DDSLFPS>I<PDAFWWAVVTMTTVGYGDMYPMTVGGKIVG439
KCNA7VLFSSAVYFAEVDR---------VDSHFTS>I<PESFWWAVVTMTTVGYGDMAPVTVGGKIVG375
KCNB1MIFSSLVFFAEKDE---------DDTKFKS>I<PASFWWATITMTTVGYGDIYPKTLLGKIVG394
KCNB2MIFSSLVFFAEKDE---------DATKFTS>I<PASFWWATITMTTVGYGDIYPKTLLGKIVG398
KCNC1LIFATMIYYAERIGAQPNDPSASEHTHFKN>I<PIGFWWAVVTMTTLGYGDMYPQTWSGMLVG417
KCNC2LIFATMIYYAERVGAQPNDPSASEHTQFKN>I<PIGFWWAVVTMTTLGYGDMYPQTWSGMLVG454
KCNC3LIFATMIYYAERIGADPDDILGSNHTYFKN>I<PIGFWWAVVTMTTLGYGDMYPKTWSGMLVG520
KCNC4LIFATMIYYAERIGARPSDPRGNDHTDFKN>I<PIGFWWAVVTMTTLGYGDMYPKTWSGMLVG453
KCND1IIFATVMFYAEKGT---------NKTNFTS>I<PAAFWYTIVTMTTLGYGDMVPSTIAGKIFG389
KCND2IIFATVMFYAEKGS---------SASKFTS>I<PAAFWYTIVTMTTLGYGDMVPKTIAGKIFG387
KCND3IIFATVMFYAEKGS---------SASKFTS>I<PASFWYTIVTMTTLGYGDMVPKTIAGKIFG384
KCNF1FVFSALGYTMEQSH---------PETLFKS>I<PQSFWWAIITMTTVGYGDIYPKTTLGKLNA387
KCNG1ALFAPLLYVIENEM-----A---DSPEFTS>I<PACYWWAVITMTTVGYGDMVPRSTPGQVVA441
KCNG2ALFAPLVHLAEREL-----G---ARRDFSS>V<PASYWWAVISMTTVGYGDMVPRSLPGQVVA386
KCNG3AIFSALSQLLEHGL-----DLETSNKDFTS>I<PAACWWVIISMTTVGYGDMYPITVPGRILG390
KCNG4TLFSPLVYVAEKES-----G---RVLEFTS>I<PASYWWAIISMTTVGYGDMVPRSVPGQMVA435
KCNS1SVFSGVAYTAEKEE----------DVGFNT>I<PACWWWGTVSMTTVGYGDVVPVTVAGKLAA438
KCNS2SIFSVVAYTIEKEE----------NEGLAT>I<PACWWWATVSMTTVGYGDVVPGTTAGKLTA391
KCNS3SIFSVLIYSVEKDD---------HTSSLTS>I<PICWWWATISMTTVGYGDTHPVTLAGKLIA387
KCNV1SIFSTVEYFAEQSI---------PDTTFTS>V<PCAWWWATTSMTTVGYGDIRPDTTTGKIVA409
KCNV2FTFSAAVYSVEHDV---------PSTNFTT>I<PHSWWWAAVSISTVGYGDMYPETHLGRFFA474
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

There are currently no reported variants at residue 299 for KCNQ1.