No paralogue variants have been mapped to residue 524 for KCNQ1.
| KCNQ1 | -------------IRRMQ----------YF>V<AKKKFQQARKPYDVRDVIEQYSQGHLNLMV | 554 |
| KCNQ2 | -------------VCVMR----------FL>V<SKRKFKESLRPYDVMDVIEQYSAGHLDMLS | 580 |
| KCNQ3 | -------------VRILQ----------FR>L<YKKKFKETLRPYDVKDVIEQYSAGHLDMLS | 559 |
| KCNQ4 | -------------IRILK----------FL>V<AKRKFKETLRPYDVKDVIEQYSAGHLDMLG | 574 |
| KCNQ5 | -------------IRIMK----------FH>V<AKRKFKETLRPYDVKDVIEQYSAGHLDMLC | 562 |
| KCNA1 | -------------KSKLL----------TD>-<------------------------------ | 494 |
| KCNA10 | -------------CSTEK----------SR>-<------------------------------ | 510 |
| KCNA2 | -------------ITKML----------TD>-<------------------------------ | 498 |
| KCNA3 | -------------IKKIF----------TD>-<------------------------------ | 574 |
| KCNA4 | -------------AKAVE----------TD>-<------------------------------ | 652 |
| KCNA5 | -------------LRRSLYALCLDTSRETD>-<------------------------------ | 612 |
| KCNA6 | -------------EKRML----------TE>-<------------------------------ | 528 |
| KCNA7 | -------------GKHLV----------TE>-<------------------------------ | 455 |
| KCNB1 | -------------KVNFM----------EG>-<------DPSPLLPVLGMYHDPLRNRGSAAA | 703 |
| KCNB2 | -------------KVNFK----------EN>R<GSAPQTPPSTARPLPVTTADFSLTTPQHIS | 753 |
| KCNC1 | -------------P-CFL----------LS>T<GEYACPPGGGMRK----------DLCKESP | 571 |
| KCNC2 | -------------ETCFL----------LT>T<GDYTCASDGGIRKG----YEKSRSLNNIAG | 606 |
| KCNC3 | -------------RACFL----------LT>-<-DYAPSPDGSIRKATGAPPLPPQDWRKPGP | 740 |
| KCNC4 | -------------AACFL----------LS>T<GDYACA-DGSVRKG----TFVLRDLPLQHS | 619 |
| KCND1 | IRLANSTASVS-RGSMQE----------LD>M<LA--GLRRSHAPQSRSSLNAKPHDSLDLNC | 589 |
| KCND2 | FRIPNANVSGSHQGSIQE----------LS>T<IQIRCVERTPLSNSRSSLNAKMEECVKLNC | 588 |
| KCND3 | THLPNSNLPATRLRSMQE----------LS>T<IHIQGSEQPSLTTSRSSLNLKADDGLRPNC | 605 |
| KCNF1 | ------------------------------>-<------------------------------ | |
| KCNG1 | ------------------------------>-<------------------------------ | |
| KCNG2 | ------------------------------>-<------------------------------ | |
| KCNG3 | ------------------------------>-<------------------------------ | |
| KCNG4 | ------------------------------>-<------------------------------ | |
| KCNS1 | ------------------------------>-<------------------------------ | |
| KCNS2 | ------------------------------>-<------------------------------ | |
| KCNS3 | ------------------------------>-<------------------------------ | |
| KCNV1 | ------------------------------>-<------------------------------ | |
| KCNV2 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V524G | c.1571T>G | Inherited Arrhythmia | LQTS,JLNS | rs199472790 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125 | ||
| Inherited Arrhythmia | LQTS | Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642 | |||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | 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 Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 115(19):2481-9. 17470695 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| Inherited Arrhythmia | JLNS | Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet. 2013 6(2):193-200. doi: 10.1161/CIRCGENETICS.112.964684 23392653 | |||
| Inherited Arrhythmia | LQTS | 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 | |||