No paralogue variants have been mapped to residue 594 for KCNQ1.
| KCNQ1 | -------------SEKSKDRGSNTIGARLN>R<VEDKVTQLDQRLALITDMLHQLLSLHGGS- | 623 |
| KCNQ2 | -------------PAEAELPEDPSMMGRLG>K<VEKQVLSMEKKLDFLVNIYMQRMGIPPTE- | 654 |
| KCNQ3 | SQQSPRNEPYVARPSTSEI-EDQSMMGKFV>K<VERQVQDMGKKLDFLVDMHMQHMERLQVQ- | 653 |
| KCNQ4 | -------------PSDAEVVDEISMMGRVV>K<VEKQVQSIEHKLDLLLGFYSRCLRSGTSA- | 650 |
| KCNQ5 | -------------TAEHETTDDLSMLGRVV>K<VEKQVQSIESKLDCLLDIYQQVLRKGSASA | 638 |
| KCNA1 | ------------------------------>-<------------------------------ | |
| KCNA10 | ------------------------------>-<------------------------------ | |
| KCNA2 | ------------------------------>-<------------------------------ | |
| KCNA3 | ------------------------------>-<------------------------------ | |
| KCNA4 | ------------------------------>-<------------------------------ | |
| KCNA5 | ------------------------------>-<------------------------------ | |
| KCNA6 | ------------------------------>-<------------------------------ | |
| KCNA7 | ------------------------------>-<------------------------------ | |
| KCNB1 | ------------------------------>-<------------------------------ | |
| KCNB2 | ------------------------------>-<------------------------------ | |
| KCNC1 | ------------------------------>-<------------------------------ | |
| KCNC2 | ------------------------------>-<------------------------------ | |
| KCNC3 | ------------------------------>-<------------------------------ | |
| KCNC4 | ------------------------------>-<------------------------------ | |
| KCND1 | ------------------------------>-<------------------------------ | |
| KCND2 | ------------------------------>-<------------------------------ | |
| KCND3 | ------------------------------>-<------------------------------ | |
| KCNF1 | ------------------------------>-<------------------------------ | |
| KCNG1 | ------------------------------>-<------------------------------ | |
| KCNG2 | ------------------------------>-<------------------------------ | |
| KCNG3 | ------------------------------>-<------------------------------ | |
| KCNG4 | ------------------------------>-<------------------------------ | |
| KCNS1 | ------------------------------>-<------------------------------ | |
| KCNS2 | ------------------------------>-<------------------------------ | |
| KCNS3 | ------------------------------>-<------------------------------ | |
| KCNV1 | ------------------------------>-<------------------------------ | |
| KCNV2 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R594P | c.1781G>C | Inherited Arrhythmia | LQTS,JLNS | rs199472815 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. Genet Med. 2007 9(1):23-33. 17224687 | ||
| 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 | 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 | |||
| p.R594Q | c.1781G>A | Inherited Arrhythmia | LQTS | rs199472815 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
| Inherited Arrhythmia | LQTS | A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. Cardiovasc Res. 2001 51(4):670-80. 11530100 | |||
| Inherited Arrhythmia | LQTS | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | |||
| 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 | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| 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 | Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. Heart Rhythm. 2006 3(7):815-21. 16818214 | |||
| Inherited Arrhythmia | LQTS | A subset of dorsal neurons modulates circadian behavior and light responses in Drosophila. Neuron. 2007 53(5):689-701. 17329209 | |||
| Inherited Arrhythmia | LQTS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||
| 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 | Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. Hum Genet. 2000 107(5):499-503. 11140949 | |||
| 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 | Structural insight into KCNQ (Kv7) channel assembly and channelopathy. Neuron. 2007 53(5):663-75. 17329207 | |||
| Inherited Arrhythmia | LQTS | Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). Cardiovasc Res. 2005 67(3):476-86. 15935335 | |||
| 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 | LQTS | Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. Biochem J. 2014 462(1):133-42. doi: 10.1042/BJ20140425. 24912595 | |||
| Inherited Arrhythmia | LQTS | Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue. Proc Natl Acad Sci U S A. 2014 111(50):E5383-92. doi: 10.1073/pnas.1419553111. 25453094 | |||