No paralogue variants have been mapped to residue 117 for KCNE2.
KCNE2 | ----------EE-----SKATIHE--NIGA>A<GFKMS----------------P | 123 |
KCNE1 | ----------EN-----HLAIEQP--NTHL>P<ETKPS----------------P | 129 |
KCNE3 | -----------------RVSM--------->-<---------------------I | 103 |
KCNE4 | CSMEGDSVSSESSSPDVHLTIQEEGADDEL>E<ETSETPLNESSEGSSENIHQNS | 170 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A117V | c.350C>T | Putative Benign | rs376886316 | SIFT: tolerated Polyphen: benign |