No paralogue variants have been mapped to residue 58 for KCNE1.
| KCNE1 | GLA-RRSPRSSDGKLEALYVLMVLGFFGFF>T<LGIMLSYIRSKKLEHSNDPFNVYIESDA-W | 87 |
| KCNE2 | LQA-KVDAENFY--YVILYLMVMIGMFSFI>I<VAILVSTVKSKRREHSNDPYHQYIVED--W | 92 |
| KCNE3 | TEERRASLPGR-DDNSYMYILFVMFLFAVT>V<GSLILGYTRSRKVDKRSDPYHVYIKN---- | 98 |
| KCNE4 | LES-RAAGGGSGNGNEYFYILVVMSFYGIF>L<IGIMLGYMKSKRREKKSSLLLLYKDEERLW | 80 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T58P | c.172A>C | Inherited Arrhythmia | LQTS | rs147187721 | 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 | ||
| Inherited Arrhythmia | LQTS | IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet. 1997 6(12):2179-85. 9328483 | |||
| p.T58I | c.173C>T | Putative Benign | SIFT: Polyphen: | ||