Paralogue Annotation for KCNQ1 residue 354

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 354
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 354

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNA1F414SEpisodic ataxia 1Medium9 20660867
KCNA1F414CEpisodic ataxia / myokymiaMedium9 18926884
KCNQ2K319TEpileptic encephalopathy, early infantileHigh9 26544041

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.



KCNQ1VGKTIASCFSVFAISFFALPAGILGSGFAL>K<VQQKQRQKHFNRQIPA--AASLI-QTAWRC381
KCNQ2NGRLLAATFTLIGVSFFALPAGILGSGFAL>K<VQEQHRQKHFEKRRNP--AAGLI-QSAWRF346
KCNQ3EGRLIAATFSLIGVSFFALPAGILGSGLAL>K<VQEQHRQKHFEKRRKP--AAELI-QAAWRY385
KCNQ4LGRVLAAGFALLGISFFALPAGILGSGFAL>K<VQEQHRQKHFEKRRMP--AANLI-QAAWRL352
KCNQ5LGRLLSAGFALLGISFFALPAGILGSGFAL>K<VQEQHRQKHFEKRRNP--AANLI-QCVWRS380
KCNA1GGKIVGSLCAIAGVLTIALPVPVIVSNFNY>F<YHRETEGEEQAQLLH-----VS--SP-NLA436
KCNA10GGKIVGTLCAIAGVLTIALPVPVIVSNFNY>F<YHRETENEEKQNIPGEIERI----------483
KCNA2GGKIVGSLCAIAGVLTIALPVPVIVSNFNY>F<YHRETEGEEQAQYLQ-----VT--SCPKIP439
KCNA3GGKIVGSLCAIAGVLTIALPVPVIVSNFNY>F<YHRETEGEEQSQYMH-----VG--SCQHLS509
KCNA4GGKIVGSLCAIAGVLTIALPVPVIVSNFNY>F<YHRETENEEQTQLTQ-----NAV-SCPYLP590
KCNA5GGKIVGSLCAIAGVLTIALPVPVIVSNFNY>F<YHRETDHEEPAVLKEE--QGTQS-QGPGLD549
KCNA6GGKIVGSLCAIAGVLTIALPVPVIVSNFNY>F<YHRETEQEEQGQYTHV-------------T481
KCNA7GGKIVGSLCAIAGVLTISLPVPVIVSNFSY>F<YHRETEGEEAGMFSHV-------------D417
KCNB1LGKIVGGLCCIAGVLVIALPIPIIVNNFSE>F<YKEQKRQEKAIKRREA--LERA--KRNG--443
KCNB2LGKIVGGLCCIAGVLVIALPIPIIVNNFSE>F<YKEQKRQEKAIKRREA--LERA--KRNG--447
KCNC1SGMLVGALCALAGVLTIAMPVPVIVNNFGM>Y<YSLAMAKQKLPKKKKK--HIPR--PPQLGS468
KCNC2SGMLVGALCALAGVLTIAMPVPVIVNNFGM>Y<YSLAMAKQKLPRKRKK--HIPP--APQASS505
KCNC3SGMLVGALCALAGVLTIAMPVPVIVNNFGM>Y<YSLAMAKQKLPKKKNK--HIPR--PPQPGS571
KCNC4SGMLVGALCALAGVLTIAMPVPVIVNNFGM>Y<YSLAMAKQKLPKKRKK--HVPR--PAQLES504
KCND1AGKIFGSICSLSGVLVIALPVPVIVSNFSR>I<YHQNQRADKRRAQQKV--RLARIRLAKSGT442
KCND2AGKIFGSICSLSGVLVIALPVPVIVSNFSR>I<YHQNQRADKRRAQKKA--RLARIRAAKSGS440
KCND3AGKIFGSICSLSGVLVIALPVPVIVSNFSR>I<YHQNQRADKRRAQKKA--RLARIRVAKTGS437
KCNF1LGKLNAAISFLCGVIAIALPIHPIINNFVR>Y<YNKQRVLETAAKHELE--LMEL--N-----433
KCNG1PGQVVALSSILSGILLMAFPVTSIFHTFSR>S<YLELKQEQERVMFRRA--QFLI----K-TK489
KCNG2PGQVVALSSILSGILLMAFPVTSIFHTFSR>S<YSELKEQQQRAASPEP--ALQE----D-ST434
KCNG3PGRILGGVCVVSGIVLLALPITFIYHSFVQ>C<YHELKFRSARYSR-----------------428
KCNG4PGQMVALSSILSGILIMAFPATSIFHTFSH>S<YLELKKEQEQLQARLR--HLQN----T-GP483
KCNS1AGKLAASGCILGGILVVALPITIIFNKFSH>F<YRRQKALEAAVRNSNH--QEFE--D-----484
KCNS2AGKLTASACILAGILVVVLPITLIFNKFSH>F<YRRQKQLESAMRSCDF--GDGM--K-----437
KCNS3AGKLIASTCIICGILVVALPITIIFNKFSK>Y<YQKQKDIDVDQCSEDA--PEKC--H-----433
KCNV1TGKIVAFMCILSGILVLALPIAIINDRFSA>C<YFTLKLKEAAVRQREA--LKKL--TKNIAT460
KCNV2LGRFFAFLCIAFGIILNGMPISILYNKFSD>Y<YSKLKAYEYTTIRRER--GEVN--F-----520
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K354Rc.1061A>G Inherited ArrhythmiaLQTSrs199473404SIFT: deleterious
Polyphen: probably damaging
ReportsInherited 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
Inherited ArrhythmiaLQTS RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159