No paralogue variants have been mapped to residue 81 for KCNE1.
| KCNE1 | LGFFGFFTLGIMLSYIRSKKLEHSNDPFNV>Y<IESDA-WQEKDKAYVQARVLESYRSCYVV- | 109 |
| KCNE2 | IGMFSFIIVAILVSTVKSKRREHSNDPYHQ>Y<IVED--WQEKYKSQILNL------------ | 103 |
| KCNE3 | MFLFAVTVGSLILGYTRSRKVDKRSDPYHV>Y<IKN--------------------------- | 98 |
| KCNE4 | MSFYGIFLIGIMLGYMKSKRREKKSSLLLL>Y<KDEERLWGEAMKPLPVVSGLRSVQVPLMLN | 103 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y81C | c.242A>G | Inherited Arrhythmia | LQTS | rs199473359 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. J Hum Genet. 2005 50(9):490-6. 16155735 | ||
| Inherited Arrhythmia | LQTS | Characterization of an LQT5-related mutation in KCNE1, Y81C: implications for a role of KCNE1 cytoplasmic domain in IKs channel function. Heart Rhythm. 2006 3(9):1031-40. 16945797 | |||
| p.Y81F | c.242A>T | Putative Benign | rs199473359 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Putative Benign | Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants. EMBO J. 1999 18(15):4137-48. 10428953 | |||