No paralogue variants have been mapped to residue 1 for KCNQ1.
| KCNQ1 | >M<AA---------------------------- | 3 |
| KCNQ2 | >-<------------------------------ | |
| KCNQ3 | >-<------------------------------ | |
| KCNQ4 | >-<------------------------------ | |
| KCNQ5 | >M<-PRHH------------------------- | 5 |
| KCNA1 | >-<------------------------------ | |
| KCNA10 | >M<DV-C------GWK----------------- | 7 |
| KCNA2 | >-<------------------------------ | |
| KCNA3 | >M<DE-RL-----SLLRSPPPPSARHRAHPPQR | 25 |
| KCNA4 | >M<EV-AM-----V------------------- | 6 |
| KCNA5 | >M<EI-AL-----V------------------- | 6 |
| KCNA6 | >M<RS-EK-----S------------------- | 6 |
| KCNA7 | >M<------------------------------ | 1 |
| KCNB1 | >M<------------------------------ | 1 |
| KCNB2 | >M<AE-K-------------------------- | 4 |
| KCNC1 | >-<------------------------------ | |
| KCNC2 | >-<------------------------------ | |
| KCNC3 | >M<LS-SV-----C------------------- | 6 |
| KCNC4 | >M<IS-SV-----C------------------- | 6 |
| KCND1 | >M<AA-GL-----A-T----------------- | 7 |
| KCND2 | >M<AA-GV-----A-A----------------- | 7 |
| KCND3 | >M<AA-GV-----A-A----------------- | 7 |
| KCNF1 | >M<DG-SG------------------------- | 5 |
| KCNG1 | >M<TL-LP------------------------- | 5 |
| KCNG2 | >-<------------------------------ | |
| KCNG3 | >M<TF---------------------------- | 3 |
| KCNG4 | >M<PM-PS------------------------- | 5 |
| KCNS1 | >M<LM-LL------------------------- | 5 |
| KCNS2 | >M<TG-QS------------------------- | 5 |
| KCNS3 | >M<VF-GE------------------------- | 5 |
| KCNV1 | >M<PS-S-------------------------- | 4 |
| KCNV2 | >M<LK-QSERRRSW------------------- | 11 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M1V | c.1A>G | Inherited Arrhythmia | LQTS | rs199473441 | SIFT: deleterious Polyphen: benign |
| Reports | 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 | ||
| p.M1T | c.2T>C | Inherited Arrhythmia | LQTS,JLNS | rs199473485 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | JLNS | Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome. Int J Mol Med. 2011 28(1):41-6. doi: 10.3892/ijmm.2011.642. 21380488 | ||
| Inherited Arrhythmia | LQTS | Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. Cardiology. 2016 133(2):73-8. doi: 10.1159/000440608. 26496715 | |||