No paralogue variants have been mapped to residue 1 for KCNH2.
| KCNH2 | --->M<PV---------------------------- | 3 |
| KCNH1 | MTM>A<GG---------------------------- | 6 |
| KCNH3 | --->M<PA---------------------------- | 3 |
| KCNH4 | --->M<PV---------------------------- | 3 |
| KCNH5 | --M>P<GG---------------------------- | 4 |
| KCNH6 | --->M<PV---------------------------- | 3 |
| KCNH7 | --->M<PV---------------------------- | 3 |
| KCNH8 | --->M<PV---------------------------- | 3 |
| CNGA1 | --->M<KL---------------------------- | 3 |
| CNGA2 | --->M<TE---------------------------- | 3 |
| CNGA3 | --->M<AK---------------------------- | 3 |
| CNGA4 | --->M<SQ---------------------------- | 3 |
| CNGB1 | --->M<LGWVQRVLPQPPGTPRKTKMQEEEEVEPEP | 31 |
| CNGB3 | --->-<------------------------------ | |
| HCN1 | --->M<EG---------------------------- | 3 |
| HCN2 | --->M<DA---------------------------- | 3 |
| HCN3 | --->M<EA---------------------------- | 3 |
| HCN4 | --->M<DK---------------------------- | 3 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M1L | c.1A>T | Inherited Arrhythmia | LQTS | rs199473036 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome. Clin Chim Acta. 2011 412(1-2):203-7. 20851114 | ||
| p.M1R | c.2T>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||