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 | ------------------------------>-<------------------LRRSLYALCLDT | 607 |
KCNA6 | ----------------------P-----HR>A<YA----------------EKRML------- | 526 |
KCNA7 | ----------------------------LW>A<PP----------------GKHLV------- | 453 |
KCNB1 | --PSPDASQHSSFFIESPKSSMKTNNPLKL>R<AL----------------KVNFM------- | 677 |
KCNB2 | SQCGLHSPLQSDNATDSPKSSLKGSNPLKS>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 | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I514T | c.1541T>C | Inherited Arrhythmia | LQTS | rs199472786 | SIFT: deleterious Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | LQTS | Gene symbol: KCNQ1. Disease: Long QT syndrome. Hum Genet. 2008 123(5):541. 20960614 | ||
Inherited Arrhythmia | LQTS | 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 |