No paralogue variants have been mapped to residue 567 for KCNQ1.
| KCNQ1 | DVRDVIEQYSQGHLNLMVRIKELQRRLDQS>I<GKPSLFIS-----------V---------- | 576 |
| KCNQ2 | DVMDVIEQYSAGHLDMLSRIKSLQSRVDQI>V<GRGPAITD--KDR--T--KG---------- | 607 |
| KCNQ3 | DVKDVIEQYSAGHLDMLSRIKYLQTRIDMI>F<TPGPPSTP--KHKKSQKGSAFTFPSQQSPR | 600 |
| KCNQ4 | DVKDVIEQYSAGHLDMLGRIKSLQTRVDQI>V<GRGPGDRKAREKG--D--KG---------- | 603 |
| KCNQ5 | DVKDVIEQYSAGHLDMLCRIKSLQTRVDQI>L<GKGQITSD-KKSR--E--KI---------- | 590 |
| KCNA1 | ------------------------------>-<------------------------------ | |
| KCNA10 | ------------------------------>-<------------------------------ | |
| KCNA2 | ------------------------------>-<------------------------------ | |
| KCNA3 | ------------------------------>-<------------------------------ | |
| KCNA4 | ------------------------------>-<------------------------------ | |
| KCNA5 | ------------------------------>-<------------------------------ | |
| KCNA6 | ------------------------------>-<------------------------------ | |
| KCNA7 | ------------------------------>-<------------------------------ | |
| KCNB1 | PVLGMYHDPLRNRGSAAAAVAGLECA---->-<------------------------------ | 711 |
| KCNB2 | PLPVTTADFSLTTPQHISTILLEETP---->-<------------------------------ | 761 |
| KCNC1 | K----------DLCKESP---VIAKY---->-<------------------------------ | 576 |
| KCNC2 | KG----YEKSRSLNNIAGLAGNALRL---->-<------------------------------ | 614 |
| KCNC3 | KATGAPPLPPQDWRKPGPPS-FLPDL---->-<------------------------------ | 747 |
| KCNC4 | KG----TFVLRDLPLQHSP---EAAC---->-<------------------------------ | 624 |
| KCND1 | QSRSSLNAKPHDSLDLNCDSRDFVAA---->-<------------------------------ | 597 |
| KCND2 | NSRSSLNAKMEECVKLNCEQPYVTTA---->-<------------------------------ | 596 |
| KCND3 | TSRSSLNLKADDGLRPNCKTSQITTA---->-<------------------------------ | 613 |
| KCNF1 | ------------------------------>-<------------------------------ | |
| KCNG1 | ------------------------------>-<------------------------------ | |
| KCNG2 | ------------------------------>-<------------------------------ | |
| KCNG3 | ------------------------------>-<------------------------------ | |
| KCNG4 | ------------------------------>-<------------------------------ | |
| KCNS1 | ------------------------------>-<------------------------------ | |
| KCNS2 | ------------------------------>-<------------------------------ | |
| KCNS3 | ------------------------------>-<------------------------------ | |
| KCNV1 | ------------------------------>-<------------------------------ | |
| KCNV2 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I567S | c.1700T>G | Inherited Arrhythmia | LQTS | rs199472805 | 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 | 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 | |||
| p.I567T | c.1700T>C | Inherited Arrhythmia | LQTS,JLNS | rs199472805 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| 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 | End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome. J Cardiovasc Electrophysiol. 2012 23(6):637-42. doi: 10.1111/j.1540-8167.2011.02265. 22429796 | |||
| Inherited Arrhythmia | JLNS | Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. Clin Genet. 2015 87(1):74-9. doi: 10.1111/cge.12330. 24372464 | |||
| p.I567F | c.1699A>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||