No paralogue variants have been mapped to residue 451 for KCNQ1.
| KCNQ1 | ----------TP-GEKMLTVPHITCDPPEE>R<RL--------DHFSVDGYDSSVRKSPTLLE | 473 |
| KCNQ2 | ----------AAKGKGSPQAQTVRRSPSAD>Q<SLED-SPSKVPKSW--SFGDRSRARQAF-- | 496 |
| KCNQ3 | ----------NTKGKL--------FTPLNV>D<AIEE-SPSKEPKPV--GLNNKERFRTAF-- | 476 |
| KCNQ4 | ----------TGPSKQHLAPPTMPTSPSSE>Q<VGEATSPTKVQKSW--SFNDRTRFRASL-- | 495 |
| KCNQ5 | ----------SIKSRQ--ASVGDRRSPSTD>I<TAEG-SPTKVQKSW--SFNDRTRFRPSL-- | 477 |
| KCNA1 | ------------------------------>-<------------------------------ | |
| KCNA10 | ------------------------------>-<------------------------------ | |
| KCNA2 | ------------------------------>-<------------------------------ | |
| KCNA3 | ------------------------------>-<------------------------------ | |
| KCNA4 | ------------------------------>-<------------------------------ | |
| KCNA5 | ------------------------------>-<------------------------------ | |
| KCNA6 | ------------------------------>-<------------------------------ | |
| KCNA7 | ------------------------------>-<------------------------------ | |
| KCNB1 | ----------SFETKEQGSPEK-------A>R<SSSSPQH-----L---------------NV | 526 |
| KCNB2 | ----------SFENKYQEVSQKDSHEQLNN>T<SSSSPQH-----L---------------SA | 537 |
| KCNC1 | ------------------------------>-<------------------------------ | |
| KCNC2 | ------------------------------>-<------------------------------ | |
| KCNC3 | ------------------------------>-<------------------------------ | |
| KCNC4 | ------------------------------>-<------------------------------ | |
| KCND1 | ----------CHE----------------->F<------------T---------------DE | 496 |
| KCND2 | ----------NHE----------------->F<------------V---------------DE | 496 |
| KCND3 | LLSVRTSTIKNHE----------------->F<------------I---------------DE | 513 |
| KCNF1 | ------------------------------>-<------------------------------ | |
| KCNG1 | ------------------------------>-<------------------------------ | |
| KCNG2 | ------------------------------>-<------------------------------ | |
| KCNG3 | ------------------------------>-<------------------------------ | |
| KCNG4 | ------------------------------>-<------------------------------ | |
| KCNS1 | ------------------------------>-<------------------------------ | |
| KCNS2 | ------------------------------>-<------------------------------ | |
| KCNS3 | ----------ENCTA--------------->-<------------------------------ | 490 |
| KCNV1 | ------------------------------>-<------------------------------ | |
| KCNV2 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R451Q | c.1352G>A | Inherited Arrhythmia | LQTS | rs199472781 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | |||
| Inherited Arrhythmia | LQTS | Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. J Am Coll Cardiol. 2004 44(1):117-25. 15234419 | |||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Inherited Arrhythmia | LQTS | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| Putative Benign | 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 | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| p.R451W | c.1351C>T | Inherited Arrhythmia | LQTS | rs199472782 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | ||