No paralogue variants have been mapped to residue 98 for KCNE1.
| KCNE1 | KKLEHSNDPFNVYIESDA-WQEKDKAYVQA>R<VLESYRSCYVV------------------- | 109 |
| KCNE2 | KRREHSNDPYHQYIVED--WQEKYKSQILN>L<------------------------------ | 103 |
| KCNE3 | RKVDKRSDPYHVYIKN-------------->-<------------------------------ | 98 |
| KCNE4 | KRREKKSSLLLLYKDEERLWGEAMKPLPVV>S<GLRSVQVPLMLNMLQESVAPALSCTLCSME | 121 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R98W | c.292C>T | Inherited Arrhythmia | LQTS | rs199473362 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
| 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 | Mechanisms of disease pathogenesis in long QT syndrome type 5. Am J Physiol Cell Physiol. 2010 298(2):C263-73. 19907016 | |||
| Unknown | Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet. 2013 6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. 23861362 | ||||
| p.R98Q | c.293G>A | Putative Benign | rs150454912 | SIFT: deleterious Polyphen: probably damaging | |
| p.Arg98Gly | c.292C>G | Unknown | SIFT: Polyphen: | ||