No paralogue variants have been mapped to residue 643 for KCNQ1.
| KCNQ1 | ---TPGSGGPPREGG--------AHITQPC>G<SGGS-------------------------- | 647 |
| KCNQ2 | PEPAPPYHSPEDSREH---VDRHGCIVKIV>R<SSSSTGQ------------------K---- | 699 |
| KCNQ3 | YYPTKGTSSPAEAEK--KEDNRYSDLKTII>C<NYSETGPPEPP------------------- | 696 |
| KCNQ4 | PDITSDYHSPVDHEDISVSAQTL-SISRSV>S<TNM--------------------------- | 694 |
| KCNQ5 | CEQTSDYQSPVDSKDLSGSAQNSGCLSRST>S<ANISRGLQFILTPNEFSAQTFYALSP---- | 707 |
| KCNA1 | ------------------------------>-<------------------------------ | |
| KCNA10 | ------------------------------>-<------------------------------ | |
| KCNA2 | ------------------------------>-<------------------------------ | |
| KCNA3 | ------------------------------>-<------------------------------ | |
| KCNA4 | ------------------------------>-<------------------------------ | |
| KCNA5 | ------------------------------>-<------------------------------ | |
| KCNA6 | ------------------------------>-<------------------------------ | |
| KCNA7 | ------------------------------>-<------------------------------ | |
| KCNB1 | ------------------TLLDK------->-<----------AVLSPESSIYTTASAKTPPR | 736 |
| KCNB2 | ------------------SQGDR------->-<----------PLLGTEVSAPCQGPSKGLSP | 786 |
| 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.G643S | c.1927G>A | Conflict | rs1800172 | SIFT: tolerated Polyphen: benign | |
| Reports | Inherited Arrhythmia | LQTS | Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome. Hum Genet. 1998 103(3):290-4. 9799083 | ||
| Putative Benign | Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. J Hum Genet. 2000 45(3):182-3. 10807545 | ||||
| Inherited Arrhythmia | LQTS | Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias. J Cardiovasc Electrophysiol. 2001 12(11):1223-9. 11761407 | |||
| 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 | Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome. J Cardiovasc Electrophysiol. 2004 15(2):190-9. 15028050 | |||
| Putative Benign | Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome. Clin Sci (Lond). 2005 108(2):143-50. 15500450 | ||||
| Inherited Arrhythmia | JLNS | [Relationship between congenital long QT syndrome and Brugada syndrome gene mutation]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2005 27(3):289-94. 16038262 | |||
| 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 | |||
| Other Cardiac Phenotype | Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia. Ann Noninvasive Electrocardiol. 2008 13(2):180-90. 18426444 | ||||
| Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||