Paralogue Annotation for KCNQ1 residue 514

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 514
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNQ1 residue 514

No paralogue variants have been mapped to residue 514 for KCNQ1.



KCNQ1------------LLTPITHISQLREHHRAT>I<KV----------------IRRMQ-------521
KCNQ2------------SCPCEFVTEDLTPGLKVS>I<RA----------------VCVMR-------547
KCNQ3------------GYGNDFPIEDMIPTLKAA>I<RA----------------VRILQ-------526
KCNQ4------------SYQCELTVDDIMPAVKTV>I<RS----------------IRILK-------541
KCNQ5------------GCQCDVSVEDLTPPLKTV>I<RA----------------IRIMK-------529
KCNA1--------------TAN----CTTAN--QN>C<VN----------------KSKLL-------492
KCNA10------------------------------>-<-G----------------CSTEK-------508
KCNA2--------------TAN----CTLAN--TN>Y<VN----------------ITKML-------496
KCNA3--------------TAT----CTTNNNPNS>C<VN----------------IKKIF-------572
KCNA4--------------GDD----SETDK--NN>C<SN----------------AKAVE-------650
KCNA5------------------------------>-<------------------LRRSLYALCLDT607
KCNA6----------------------P-----HR>A<YA----------------EKRML-------526
KCNA7----------------------------LW>A<PP----------------GKHLV-------453
KCNB1--PSPDASQHSSFFIESPKSSMKTNNPLKL>R<AL----------------KVNFM-------677
KCNB2SQCGLHSPLQSDNATDSPKSSLKGSNPLKS>R<SL----------------KVNFK-------720
KCNC1------------LTPDEGLPFTRSGTRERY>-<-G----------------P-CFL-------548
KCNC2------------LSPPERLPIRRSSTRDKN>R<RG----------------ETCFL-------577
KCNC3------------MSPEDKSPIT-PGSRGRY>S<RD----------------RACFL-------709
KCNC4------------PTPEERRALRRSTTRDRN>K<KA----------------AACFL-------591
KCND1------------VSSQPVGPGSLLSSCCPR>R<AKRRAIRLANSTASVS-RGSMQE-------558
KCND2------------LSSQQ----GVTSTCCSR>R<HKK-TFRIPNANVSGSHQGSIQE-------555
KCND3------------LSSHP----GLTTTCCSR>R<SKK-TTHLPNSNLPATRLRSMQE-------572
KCNF1------------------------------>-<------------------------------
KCNG1------------------------------>-<------------------------------
KCNG2------------------------------>-<------------------------------
KCNG3------------------------------>-<------------------------------
KCNG4------------------------------>-<------------------------------
KCNS1------------------------------>-<------------------------------
KCNS2------------------------------>-<------------------------------
KCNS3------------------------------>-<------------------------------
KCNV1------------------------------>-<------------------------------
KCNV2------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I514Tc.1541T>C Inherited ArrhythmiaLQTSrs199472786SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Gene symbol: KCNQ1. Disease: Long QT syndrome. Hum Genet. 2008 123(5):541. 20960614
Inherited ArrhythmiaLQTS Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531