No paralogue variants have been mapped to residue 94 for KCNE2.
KCNE2 | AILVSTVKSKRREHSNDPYHQYIVED--WQ>E<KYKSQILNL--------------------- | 103 |
KCNE1 | GIMLSYIRSKKLEHSNDPFNVYIESDA-WQ>E<KDKAYVQARVLESYRSCYVV---------- | 109 |
KCNE3 | SLILGYTRSRKVDKRSDPYHVYIKN----->-<------------------------------ | 98 |
KCNE4 | GIMLGYMKSKRREKKSSLLLLYKDEERLWG>E<AMKPLPVVSGLRSVQVPLMLNMLQESVAPA | 112 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E94G | c.281A>G | Inherited Arrhythmia | LQTS | rs74424227 | 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 |