No paralogue variants have been mapped to residue 80 for KCNE1.
KCNE1 | VLGFFGFFTLGIMLSYIRSKKLEHSNDPFN>V<YIESDA-WQEKDKAYVQARVLESYRSCYVV | 109 |
KCNE2 | MIGMFSFIIVAILVSTVKSKRREHSNDPYH>Q<YIVED--WQEKYKSQILNL----------- | 103 |
KCNE3 | VMFLFAVTVGSLILGYTRSRKVDKRSDPYH>V<YIKN-------------------------- | 98 |
KCNE4 | VMSFYGIFLIGIMLGYMKSKRREKKSSLLL>L<YKDEERLWGEAMKPLPVVSGLRSVQVPLML | 102 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V80L | c.238G>C | Putative Benign | SIFT: Polyphen: | ||
p.V80I | c.238G>A | Inherited Arrhythmia | SIFT: Polyphen: | ||
Reports | Inherited Arrhythmia | LQTS | Genetic analysis, in silico prediction, and family segregation in long QT syndrome. Eur J Hum Genet. 2015 23(1):79-85. doi: 10.1038/ejhg.2014.54. 24667783 |