Paralogue Annotation for KCNQ1 residue 293

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 293
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 293

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2N258SEpilepsy, benign neonatalMedium8 18246739, 21913284

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.



KCNQ1IGFLGLIFSSYFVYLAEKDAVN-----ESG>R<VEFGSYADALWWGVVTVTTIGYGDKVPQTW323
KCNQ2IGFLCLILASFLVYLAEKGE---------->N<DHFDTYADALWWGLITLTTIGYGDKYPQTW288
KCNQ3IGFLTLILSSFLVYLVEKDVPEVDAQGEEM>K<EEFETYADALWWGLITLATIGYGDKTPKTW327
KCNQ4IGFLVLIFASFLVYLAEKDA---------->N<SDFSSYADSLWWGTITLTTIGYGDKTPHTW294
KCNQ5IGFLVLIFSSFLVYLVEKDA---------->N<KEFSTYADALWWGTITLTTIGYGDKTPLTW322
KCNA1FLFIGVILFSSAVYFAEAEE---------A>E<SHFSSIPDAFWWAVVSMTTVGYGDMYPVTI383
KCNA10FLFIGVILFSSAVYFAEVDE---------P>E<SHFSSIPDGFWWAVVTMTTVGYGDMCPTTP432
KCNA2FLFIGVILFSSAVYFAEADE---------R>E<SQFPSIPDAFWWAVVSMTTVGYGDMVPTTI385
KCNA3FLFIGVILFSSAVYFAEADD---------P>T<SGFSSIPDAFWWAVVTMTTVGYGDMHPVTI455
KCNA4FLFIGVILFSSAVYFAEADE---------P>T<THFQSIPDAFWWAVVTMTTVGYGDMKPITV535
KCNA5FLFIGVILFSSAVYFAEADN---------Q>G<THFSSIPDAFWWAVVTMTTVGYGDMRPITV491
KCNA6FLFIGVILFSSAVYFAEADD---------D>D<SLFPSIPDAFWWAVVTMTTVGYGDMYPMTV433
KCNA7FLFIGVVLFSSAVYFAEVDR---------V>D<SHFTSIPESFWWAVVTMTTVGYGDMAPVTV369
KCNB1FLAMGIMIFSSLVFFAEKDE---------D>D<TKFKSIPASFWWATITMTTVGYGDIYPKTL388
KCNB2FLAMGIMIFSSLVFFAEKDE---------D>A<TKFTSIPASFWWATITMTTVGYGDIYPKTL392
KCNC1FLALGVLIFATMIYYAERIGAQPNDPSASE>H<THFKNIPIGFWWAVVTMTTLGYGDMYPQTW411
KCNC2FLALGVLIFATMIYYAERVGAQPNDPSASE>H<TQFKNIPIGFWWAVVTMTTLGYGDMYPQTW448
KCNC3FLALGVLIFATMIYYAERIGADPDDILGSN>H<TYFKNIPIGFWWAVVTMTTLGYGDMYPKTW514
KCNC4FLALGVLIFATMIYYAERIGARPSDPRGND>H<TDFKNIPIGFWWAVVTMTTLGYGDMYPKTW447
KCND1SLTMAIIIFATVMFYAEKGT---------N>K<TNFTSIPAAFWYTIVTMTTLGYGDMVPSTI383
KCND2SLTMAIIIFATVMFYAEKGS---------S>A<SKFTSIPAAFWYTIVTMTTLGYGDMVPKTI381
KCND3SLTMAIIIFATVMFYAEKGS---------S>A<SKFTSIPASFWYTIVTMTTLGYGDMVPKTI378
KCNF1YLAVGIFVFSALGYTMEQSH---------P>E<TLFKSIPQSFWWAIITMTTVGYGDIYPKTT381
KCNG1FLCVAIALFAPLLYVIENEM-----A---D>S<PEFTSIPACYWWAVITMTTVGYGDMVPRST435
KCNG2FLCVAMALFAPLVHLAEREL-----G---A>R<RDFSSVPASYWWAVISMTTVGYGDMVPRSL380
KCNG3FICVAMAIFSALSQLLEHGL-----DLETS>N<KDFTSIPAACWWVIISMTTVGYGDMYPITV384
KCNG4FLAVAITLFSPLVYVAEKES-----G---R>V<LEFTSIPASYWWAIISMTTVGYGDMVPRSV429
KCNS1YLAVGVSVFSGVAYTAEKEE---------->D<VGFNTIPACWWWGTVSMTTVGYGDVVPVTV432
KCNS2YLSVGISIFSVVAYTIEKEE---------->N<EGLATIPACWWWATVSMTTVGYGDVVPGTT385
KCNS3FLSVGISIFSVLIYSVEKDD---------H>T<SSLTSIPICWWWATISMTTVGYGDTHPVTL381
KCNV1FLSVGISIFSTVEYFAEQSI---------P>D<TTFTSVPCAWWWATTSMTTVGYGDIRPDTT403
KCNV2FIAMGIFTFSAAVYSVEHDV---------P>S<TNFTTIPHSWWWAAVSISTVGYGDMYPETH468
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R293Cc.877C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642
Inherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
Inherited ArrhythmiaLQTS Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet. 2015 47(7):717-26. doi: 10.1038/ng.3304. 25985138
Inherited ArrhythmiaLQTS High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet. 2015 134(9):967-80. doi: 10.1007/s00439-015-1575-0. 26077850
p.R293Hc.878G>A Putative BenignSIFT: deleterious
Polyphen: benign
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300