No paralogue variants have been mapped to residue 28 for KCNE1.
| KCNE1 | AVTPFLTKLWQE---T------VQQGGN-M>S<GLA-RRSPRSSDGKLEALYVLMVLGFFGFF | 57 |
| KCNE2 | TLEDVFRRIFITYMDNW----RQNTTAEQE>A<LQA-KVDAENFY--YVILYLMVMIGMFSFI | 63 |
| KCNE3 | SLHAVLKALNATLHSNLLCRPGPGLGPD-N>Q<TEERRASLPGR-DDNSYMYILFVMFLFAVT | 71 |
| KCNE4 | -------MLKMEPLNST----HPGTAASSS>P<LES-RAAGGGSGNGNEYFYILVVMSFYGIF | 49 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S28L | c.83C>T | Inherited Arrhythmia | LQTS | rs199473350 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005 9(4):281-4. 16379539 | ||
| 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 | |||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||