Paralogue Annotation for KCNQ1 residue 313

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 313
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 313

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNQ3I317TEpilepsy, benign neonatalHigh9 24375629
KCNB1V378ANeurodevelopmental disorderMedium9 25473036, 26503721

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.



KCNQ1VN-----ESGRVEFGSYADALWWGVVTVTT>I<GYGDKVPQTWVGKTIASCFSVFAISFFALP343
KCNQ2----------NDHFDTYADALWWGLITLTT>I<GYGDKYPQTWNGRLLAATFTLIGVSFFALP308
KCNQ3PEVDAQGEEMKEEFETYADALWWGLITLAT>I<GYGDKTPKTWEGRLIAATFSLIGVSFFALP347
KCNQ4----------NSDFSSYADSLWWGTITLTT>I<GYGDKTPHTWLGRVLAAGFALLGISFFALP314
KCNQ5----------NKEFSTYADALWWGTITLTT>I<GYGDKTPLTWLGRLLSAGFALLGISFFALP342
KCNA1---------AESHFSSIPDAFWWAVVSMTT>V<GYGDMYPVTIGGKIVGSLCAIAGVLTIALP403
KCNA10---------PESHFSSIPDGFWWAVVTMTT>V<GYGDMCPTTPGGKIVGTLCAIAGVLTIALP452
KCNA2---------RESQFPSIPDAFWWAVVSMTT>V<GYGDMVPTTIGGKIVGSLCAIAGVLTIALP405
KCNA3---------PTSGFSSIPDAFWWAVVTMTT>V<GYGDMHPVTIGGKIVGSLCAIAGVLTIALP475
KCNA4---------PTTHFQSIPDAFWWAVVTMTT>V<GYGDMKPITVGGKIVGSLCAIAGVLTIALP555
KCNA5---------QGTHFSSIPDAFWWAVVTMTT>V<GYGDMRPITVGGKIVGSLCAIAGVLTIALP511
KCNA6---------DDSLFPSIPDAFWWAVVTMTT>V<GYGDMYPMTVGGKIVGSLCAIAGVLTIALP453
KCNA7---------VDSHFTSIPESFWWAVVTMTT>V<GYGDMAPVTVGGKIVGSLCAIAGVLTISLP389
KCNB1---------DDTKFKSIPASFWWATITMTT>V<GYGDIYPKTLLGKIVGGLCCIAGVLVIALP408
KCNB2---------DATKFTSIPASFWWATITMTT>V<GYGDIYPKTLLGKIVGGLCCIAGVLVIALP412
KCNC1AQPNDPSASEHTHFKNIPIGFWWAVVTMTT>L<GYGDMYPQTWSGMLVGALCALAGVLTIAMP431
KCNC2AQPNDPSASEHTQFKNIPIGFWWAVVTMTT>L<GYGDMYPQTWSGMLVGALCALAGVLTIAMP468
KCNC3ADPDDILGSNHTYFKNIPIGFWWAVVTMTT>L<GYGDMYPKTWSGMLVGALCALAGVLTIAMP534
KCNC4ARPSDPRGNDHTDFKNIPIGFWWAVVTMTT>L<GYGDMYPKTWSGMLVGALCALAGVLTIAMP467
KCND1---------NKTNFTSIPAAFWYTIVTMTT>L<GYGDMVPSTIAGKIFGSICSLSGVLVIALP403
KCND2---------SASKFTSIPAAFWYTIVTMTT>L<GYGDMVPKTIAGKIFGSICSLSGVLVIALP401
KCND3---------SASKFTSIPASFWYTIVTMTT>L<GYGDMVPKTIAGKIFGSICSLSGVLVIALP398
KCNF1---------PETLFKSIPQSFWWAIITMTT>V<GYGDIYPKTTLGKLNAAISFLCGVIAIALP401
KCNG1-----A---DSPEFTSIPACYWWAVITMTT>V<GYGDMVPRSTPGQVVALSSILSGILLMAFP455
KCNG2-----G---ARRDFSSVPASYWWAVISMTT>V<GYGDMVPRSLPGQVVALSSILSGILLMAFP400
KCNG3-----DLETSNKDFTSIPAACWWVIISMTT>V<GYGDMYPITVPGRILGGVCVVSGIVLLALP404
KCNG4-----G---RVLEFTSIPASYWWAIISMTT>V<GYGDMVPRSVPGQMVALSSILSGILIMAFP449
KCNS1----------DVGFNTIPACWWWGTVSMTT>V<GYGDVVPVTVAGKLAASGCILGGILVVALP452
KCNS2----------NEGLATIPACWWWATVSMTT>V<GYGDVVPGTTAGKLTASACILAGILVVVLP405
KCNS3---------HTSSLTSIPICWWWATISMTT>V<GYGDTHPVTLAGKLIASTCIICGILVVALP401
KCNV1---------PDTTFTSVPCAWWWATTSMTT>V<GYGDIRPDTTTGKIVAFMCILSGILVLALP423
KCNV2---------PSTNFTTIPHSWWWAAVSIST>V<GYGDMYPETHLGRFFAFLCIAFGIILNGMP488
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I313Mc.939C>G Inherited ArrhythmiaLQTSrs199472747SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997 95(3):565-7. 9024139