Paralogue Annotation for KCNQ1 residue 311

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 311
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 311

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ2T276IOhtahara syndromeHigh9 24463883
KCNA1T371IIntellectual disabilityHigh9 24896178

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.



KCNQ1DAVN-----ESGRVEFGSYADALWWGVVTV>T<TIGYGDKVPQTWVGKTIASCFSVFAISFFA341
KCNQ2GE----------NDHFDTYADALWWGLITL>T<TIGYGDKYPQTWNGRLLAATFTLIGVSFFA306
KCNQ3DVPEVDAQGEEMKEEFETYADALWWGLITL>A<TIGYGDKTPKTWEGRLIAATFSLIGVSFFA345
KCNQ4DA----------NSDFSSYADSLWWGTITL>T<TIGYGDKTPHTWLGRVLAAGFALLGISFFA312
KCNQ5DA----------NKEFSTYADALWWGTITL>T<TIGYGDKTPLTWLGRLLSAGFALLGISFFA340
KCNA1EE---------AESHFSSIPDAFWWAVVSM>T<TVGYGDMYPVTIGGKIVGSLCAIAGVLTIA401
KCNA10DE---------PESHFSSIPDGFWWAVVTM>T<TVGYGDMCPTTPGGKIVGTLCAIAGVLTIA450
KCNA2DE---------RESQFPSIPDAFWWAVVSM>T<TVGYGDMVPTTIGGKIVGSLCAIAGVLTIA403
KCNA3DD---------PTSGFSSIPDAFWWAVVTM>T<TVGYGDMHPVTIGGKIVGSLCAIAGVLTIA473
KCNA4DE---------PTTHFQSIPDAFWWAVVTM>T<TVGYGDMKPITVGGKIVGSLCAIAGVLTIA553
KCNA5DN---------QGTHFSSIPDAFWWAVVTM>T<TVGYGDMRPITVGGKIVGSLCAIAGVLTIA509
KCNA6DD---------DDSLFPSIPDAFWWAVVTM>T<TVGYGDMYPMTVGGKIVGSLCAIAGVLTIA451
KCNA7DR---------VDSHFTSIPESFWWAVVTM>T<TVGYGDMAPVTVGGKIVGSLCAIAGVLTIS387
KCNB1DE---------DDTKFKSIPASFWWATITM>T<TVGYGDIYPKTLLGKIVGGLCCIAGVLVIA406
KCNB2DE---------DATKFTSIPASFWWATITM>T<TVGYGDIYPKTLLGKIVGGLCCIAGVLVIA410
KCNC1IGAQPNDPSASEHTHFKNIPIGFWWAVVTM>T<TLGYGDMYPQTWSGMLVGALCALAGVLTIA429
KCNC2VGAQPNDPSASEHTQFKNIPIGFWWAVVTM>T<TLGYGDMYPQTWSGMLVGALCALAGVLTIA466
KCNC3IGADPDDILGSNHTYFKNIPIGFWWAVVTM>T<TLGYGDMYPKTWSGMLVGALCALAGVLTIA532
KCNC4IGARPSDPRGNDHTDFKNIPIGFWWAVVTM>T<TLGYGDMYPKTWSGMLVGALCALAGVLTIA465
KCND1GT---------NKTNFTSIPAAFWYTIVTM>T<TLGYGDMVPSTIAGKIFGSICSLSGVLVIA401
KCND2GS---------SASKFTSIPAAFWYTIVTM>T<TLGYGDMVPKTIAGKIFGSICSLSGVLVIA399
KCND3GS---------SASKFTSIPASFWYTIVTM>T<TLGYGDMVPKTIAGKIFGSICSLSGVLVIA396
KCNF1SH---------PETLFKSIPQSFWWAIITM>T<TVGYGDIYPKTTLGKLNAAISFLCGVIAIA399
KCNG1EM-----A---DSPEFTSIPACYWWAVITM>T<TVGYGDMVPRSTPGQVVALSSILSGILLMA453
KCNG2EL-----G---ARRDFSSVPASYWWAVISM>T<TVGYGDMVPRSLPGQVVALSSILSGILLMA398
KCNG3GL-----DLETSNKDFTSIPAACWWVIISM>T<TVGYGDMYPITVPGRILGGVCVVSGIVLLA402
KCNG4ES-----G---RVLEFTSIPASYWWAIISM>T<TVGYGDMVPRSVPGQMVALSSILSGILIMA447
KCNS1EE----------DVGFNTIPACWWWGTVSM>T<TVGYGDVVPVTVAGKLAASGCILGGILVVA450
KCNS2EE----------NEGLATIPACWWWATVSM>T<TVGYGDVVPGTTAGKLTASACILAGILVVV403
KCNS3DD---------HTSSLTSIPICWWWATISM>T<TVGYGDTHPVTLAGKLIASTCIICGILVVA399
KCNV1SI---------PDTTFTSVPCAWWWATTSM>T<TVGYGDIRPDTTTGKIVAFMCILSGILVLA421
KCNV2DV---------PSTNFTTIPHSWWWAAVSI>S<TVGYGDMYPETHLGRFFAFLCIAFGIILNG486
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T311Ac.931A>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041
p.T311Ic.932C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. Hum Mutat. 1998 11(2):158-65. 9482580
Inherited ArrhythmiaLQTS Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125