No paralogue variants have been mapped to residue 448 for KCNQ1.
| KCNQ1 | -------------TP-GEKMLTVPHITCDP>P<EERRL--------DHFSVDGYDSSVRKSPT | 470 |
| KCNQ2 | -------------AAKGKGSPQAQTVRRSP>S<ADQSLED-SPSKVPKSW--SFGDRSRARQA | 495 |
| KCNQ3 | -------------NTKGKL--------FTP>L<NVDAIEE-SPSKEPKPV--GLNNKERFRTA | 475 |
| KCNQ4 | -------------TGPSKQHLAPPTMPTSP>S<SEQVGEATSPTKVQKSW--SFNDRTRFRAS | 494 |
| KCNQ5 | -------------SIKSRQ--ASVGDRRSP>S<TDITAEG-SPTKVQKSW--SFNDRTRFRPS | 476 |
| KCNA1 | ------------------------------>-<------------------------------ | |
| KCNA10 | ------------------------------>-<------------------------------ | |
| KCNA2 | ------------------------------>-<------------------------------ | |
| KCNA3 | ------------------------------>-<------------------------------ | |
| KCNA4 | ------------------------------>-<------------------------------ | |
| KCNA5 | ------------------------------>-<------------------------------ | |
| KCNA6 | ------------------------------>-<------------------------------ | |
| KCNA7 | ------------------------------>-<------------------------------ | |
| KCNB1 | -------------SFETKEQGSPEK----->-<-ARSSSSPQH-----L-------------- | 524 |
| KCNB2 | -------------SFENKYQEVSQKDSHEQ>L<NNTSSSSPQH-----L-------------- | 535 |
| KCNC1 | ------------------------------>-<------------------------------ | |
| KCNC2 | ------------------------------>-<------------------------------ | |
| KCNC3 | ------------------------------>-<------------------------------ | |
| KCNC4 | ------------------------------>-<------------------------------ | |
| KCND1 | -------------CHE-------------->-<--F------------T-------------- | 494 |
| KCND2 | -------------NHE-------------->-<--F------------V-------------- | 494 |
| KCND3 | DDPLLSVRTSTIKNHE-------------->-<--F------------I-------------- | 511 |
| KCNF1 | ------------------------------>-<------------------------------ | |
| KCNG1 | ------------------------------>-<------------------------------ | |
| KCNG2 | ------------------------------>-<------------------------------ | |
| KCNG3 | ------------------------------>-<------------------------------ | |
| KCNG4 | ------------------------------>-<------------------------------ | |
| KCNS1 | ------------------------------>-<------------------------------ | |
| KCNS2 | ------------------------------>-<------------------------------ | |
| KCNS3 | -------------ENCTA------------>-<------------------------------ | 490 |
| KCNV1 | ------------------------------>-<------------------------------ | |
| KCNV2 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P448L | c.1343C>T | Inherited Arrhythmia | LQTS,JLNS | rs12720449 | SIFT: tolerated Polyphen: benign |
| 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 | ||
| 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.P448R | c.1343C>G | Conflict | rs12720449 | SIFT: tolerated Polyphen: benign | |
| 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 | Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002 105(16):1943-8. 11997281 | |||
| 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 | [A novel KCNQ1 mutation in Chinese with congenital long QT syndrome]. Zhonghua Er Ke Za Zhi. 2003 41(10):724-7. 14731347 | |||
| Inherited Arrhythmia | LQTS | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| Inherited Arrhythmia | LQTS | Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing. J Mol Cell Cardiol. 2004 37(1):79-89. 15242738 | |||
| Putative Benign | Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. J Hum Genet. 2005 50(9):490-6. 16155735 | ||||
| Inherited Arrhythmia | LQTS | Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. Br J Clin Pharmacol. 2006 61(3):301-8. 16487223 | |||
| Inherited Arrhythmia | AF | The single nucleotide polymorphisms of I(Ks) potassium channel genes and their association with atrial fibrillation in a Chinese population. Cardiology. 2007 108(2):97-103. 17016049 | |||
| Inherited Arrhythmia | LQTS | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| Inherited Arrhythmia | LQTS | Mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes in a long QT syndrome family. Ann Acad Med Singapore. 2007 36(6):394-8. 17597962 | |||
| Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Other Disease Phenotype | Several polymorphisms of KCNQ1 gene are associated with plasma lipid levels in general Chinese populations. PLoS One. 2012 7(3):e34229. doi: 10.1371/journal.pone.0034229. 22479571 | ||||
| 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 | Clinical interpretation and implications of whole-genome sequencing. JAMA. 2014 311(10):1035-45. doi: 10.1001/jama.2014.1717. 24618965 | |||
| Inherited Arrhythmia | LQTS | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 | |||
| Other Cardiac Phenotype | Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. Int J Legal Med. 2016 130(4):1011-21. doi: 10.1007/s00414-016-1317-4. 26846766 | ||||
| p.P448Q | c.1343C>A | Putative Benign | SIFT: tolerated Polyphen: benign | ||
| p.P448S | c.1342C>T | Putative Benign | SIFT: Polyphen: | ||