No paralogue variants have been mapped to residue 60 for KCNE1.
KCNE1 | A-RRSPRSSDGKLEALYVLMVLGFFGFFTL>G<IMLSYIRSKKLEHSNDPFNVYIESDA-WQE | 89 |
KCNE2 | A-KVDAENFY--YVILYLMVMIGMFSFIIV>A<ILVSTVKSKRREHSNDPYHQYIVED--WQE | 94 |
KCNE3 | ERRASLPGR-DDNSYMYILFVMFLFAVTVG>S<LILGYTRSRKVDKRSDPYHVYIKN------ | 98 |
KCNE4 | S-RAAGGGSGNGNEYFYILVVMSFYGIFLI>G<IMLGYMKSKRREKKSSLLLLYKDEERLWGE | 82 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G60D | c.179G>A | Inherited Arrhythmia | AF | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | AF | Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation. BMC Med Genet. 2012 13:24. 22471742 |