No paralogue variants have been mapped to residue 2 for KCNQ1.
| KCNQ1 | M>A<A----------------------------- | 3 |
| KCNQ2 | ->-<------------------------------ | |
| KCNQ3 | ->-<------------------------------ | |
| KCNQ4 | ->-<------------------------------ | |
| KCNQ5 | M>-<PRHH-------------------------A | 6 |
| KCNA1 | ->-<------------------------------ | |
| KCNA10 | M>D<V-C------GWK------------------ | 7 |
| KCNA2 | ->-<------------------------------ | |
| KCNA3 | M>D<E-RL-----SLLRSPPPPSARHRAHPPQRP | 26 |
| KCNA4 | M>E<V-AM-----V-------------------S | 7 |
| KCNA5 | M>E<I-AL-----V-------------------P | 7 |
| KCNA6 | M>R<S-EK-----S-------------------L | 7 |
| KCNA7 | M>-<------------------------------ | 1 |
| KCNB1 | M>-<------------------------------ | 1 |
| KCNB2 | M>A<E-K--------------------------- | 4 |
| KCNC1 | ->-<------------------------------ | |
| KCNC2 | ->-<------------------------------ | |
| KCNC3 | M>L<S-SV-----C-------------------V | 7 |
| KCNC4 | M>I<S-SV-----C-------------------V | 7 |
| KCND1 | M>A<A-GL-----A-T------------------ | 7 |
| KCND2 | M>A<A-GV-----A-A------------------ | 7 |
| KCND3 | M>A<A-GV-----A-A------------------ | 7 |
| KCNF1 | M>D<G-SG-------------------------- | 5 |
| KCNG1 | M>T<L-LP-------------------------- | 5 |
| KCNG2 | ->-<------------------------------ | |
| KCNG3 | M>T<F----------------------------- | 3 |
| KCNG4 | M>P<M-PS-------------------------- | 5 |
| KCNS1 | M>L<M-LL-------------------------- | 5 |
| KCNS2 | M>T<G-QS-------------------------- | 5 |
| KCNS3 | M>V<F-GE-------------------------- | 5 |
| KCNV1 | M>P<S-S--------------------------- | 4 |
| KCNV2 | M>L<K-QSERRRSW-------------------S | 12 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A2V | c.5C>T | Inherited Arrhythmia | LQTS | rs199473442 | 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 | 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 | |||