No paralogue variants have been mapped to residue 25 for KCNE1.
KCNE1 | -NTTAVTPFLTKLWQE---T------VQQG>G<N-MSGLA-RRSPRSSDGKLEALYVLMVLGF | 53 |
KCNE2 | -FTQTLEDVFRRIFITYMDNW----RQNTT>A<EQEALQA-KVDAENFY--YVILYLMVMIGM | 59 |
KCNE3 | TWYESLHAVLKALNATLHSNLLCRPGPGLG>P<D-NQTEERRASLPGR-DDNSYMYILFVMFL | 67 |
KCNE4 | -----------MLKMEPLNST----HPGTA>A<SSSPLES-RAAGGGSGNGNEYFYILVVMSF | 45 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G25V | c.74G>T | 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 |