| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNQ2 | I592M | Epilepsy, rolandic without neonatal seizures | Low | 3 | 18625963 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.
| KCNQ1 | YDVRDVIEQYSQGHLNLMVRIKELQRRLDQ>S<IGKPSLFIS-----------V--------- | 576 |
| KCNQ2 | YDVMDVIEQYSAGHLDMLSRIKSLQSRVDQ>I<VGRGPAITD--KDR--T--KG--------- | 607 |
| KCNQ3 | YDVKDVIEQYSAGHLDMLSRIKYLQTRIDM>I<FTPGPPSTP--KHKKSQKGSAFTFPSQQSP | 599 |
| KCNQ4 | YDVKDVIEQYSAGHLDMLGRIKSLQTRVDQ>I<VGRGPGDRKAREKG--D--KG--------- | 603 |
| KCNQ5 | YDVKDVIEQYSAGHLDMLCRIKSLQTRVDQ>I<LGKGQITSD-KKSR--E--KI--------- | 590 |
| KCNA1 | ------------------------------>-<------------------------------ | |
| KCNA10 | ------------------------------>-<------------------------------ | |
| KCNA2 | ------------------------------>-<------------------------------ | |
| KCNA3 | ------------------------------>-<------------------------------ | |
| KCNA4 | ------------------------------>-<------------------------------ | |
| KCNA5 | ------------------------------>-<------------------------------ | |
| KCNA6 | ------------------------------>-<------------------------------ | |
| KCNA7 | ------------------------------>-<------------------------------ | |
| KCNB1 | LPVLGMYHDPLRNRGSAAAAVAGLECA--->-<------------------------------ | 711 |
| KCNB2 | RPLPVTTADFSLTTPQHISTILLEETP--->-<------------------------------ | 761 |
| KCNC1 | RK----------DLCKESP---VIAKY--->-<------------------------------ | 576 |
| KCNC2 | RKG----YEKSRSLNNIAGLAGNALRL--->-<------------------------------ | 614 |
| KCNC3 | RKATGAPPLPPQDWRKPGPPS-FLPDL--->-<------------------------------ | 747 |
| KCNC4 | RKG----TFVLRDLPLQHSP---EAAC--->-<------------------------------ | 624 |
| KCND1 | PQSRSSLNAKPHDSLDLNCDSRDFVAA--->-<------------------------------ | 597 |
| KCND2 | SNSRSSLNAKMEECVKLNCEQPYVTTA--->-<------------------------------ | 596 |
| KCND3 | TTSRSSLNLKADDGLRPNCKTSQITTA--->-<------------------------------ | 613 |
| KCNF1 | ------------------------------>-<------------------------------ | |
| KCNG1 | ------------------------------>-<------------------------------ | |
| KCNG2 | ------------------------------>-<------------------------------ | |
| KCNG3 | ------------------------------>-<------------------------------ | |
| KCNG4 | ------------------------------>-<------------------------------ | |
| KCNS1 | ------------------------------>-<------------------------------ | |
| KCNS2 | ------------------------------>-<------------------------------ | |
| KCNS3 | ------------------------------>-<------------------------------ | |
| KCNV1 | ------------------------------>-<------------------------------ | |
| KCNV2 | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S566F | c.1697C>T | Inherited Arrhythmia | LQTS | rs199472804 | 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 | 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 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 | 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 | |||
| Inherited Arrhythmia | LQTS | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||
| p.S566P | c.1696T>C | Inherited Arrhythmia | LQTS | rs199472803 | 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 | ||
| p.S566Y | c.1697C>A | Inherited Arrhythmia | LQTS | rs199472804 | SIFT: deleterious Polyphen: probably damaging |
| Reports | 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 | 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 | |||