No paralogue variants have been mapped to residue 77 for KCNE2.
| KCNE2 | -YVILYLMVMIGMFSFIIVAILVSTVKSKR>R<EHSNDPYHQYIVED--WQEKYKSQILNL-- | 103 |
| KCNE1 | KLEALYVLMVLGFFGFFTLGIMLSYIRSKK>L<EHSNDPFNVYIESDA-WQEKDKAYVQARVL | 100 |
| KCNE3 | DNSYMYILFVMFLFAVTVGSLILGYTRSRK>V<DKRSDPYHVYIKN----------------- | 98 |
| KCNE4 | GNEYFYILVVMSFYGIFLIGIMLGYMKSKR>R<EKKSSLLLLYKDEERLWGEAMKPLPVVSGL | 93 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R77Q | c.230G>A | Inherited Arrhythmia | LQTS | rs199473365 | 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 | ||
| 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.R77W | c.229C>T | Inherited Arrhythmia | LQTS | rs141423405 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | ||
| Inherited Arrhythmia | LQTS | Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition. Heart Rhythm. 2007 4(2):170-4. 17275752 | |||
| Inherited Arrhythmia | LQTS | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| 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 | ||||