No paralogue variants have been mapped to residue 67 for KCNE1.
| KCNE1 | SSDGKLEALYVLMVLGFFGFFTLGIMLSYI>R<SKKLEHSNDPFNVYIESDA-WQEKDKAYVQ | 96 |
| KCNE2 | NFY--YVILYLMVMIGMFSFIIVAILVSTV>K<SKRREHSNDPYHQYIVED--WQEKYKSQIL | 101 |
| KCNE3 | GR-DDNSYMYILFVMFLFAVTVGSLILGYT>R<SRKVDKRSDPYHVYIKN------------- | 98 |
| KCNE4 | GSGNGNEYFYILVVMSFYGIFLIGIMLGYM>K<SKRREKKSSLLLLYKDEERLWGEAMKPLPV | 89 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R67C | c.199C>T | Inherited Arrhythmia | LQTS | rs199473645 | 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 | ||
| p.R67H | c.200G>A | Inherited Arrhythmia | LQTS | rs79654911 | 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 | ||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| p.R67S | c.199C>A | Putative Benign | SIFT: Polyphen: | ||