No paralogue variants have been mapped to residue 2314 for RYR2.
RYR2 | GYPDIGWNPVEGERYLDFLRFAVFCNGESV>E<ENANVVVRLLIRRPECFGPALRGEGGNGLL | 2344 |
RYR1 | GYPDIGWNPCGGERYLDFLRFAVFVNGESV>E<ENANVVVRLLIRKPECFGPALRGEGGSGLL | 2377 |
RYR3 | GYPDVGWNPIEGERYLSFLRFAVFVNSESV>E<ENASVVVKLLIRRPECFGPALRGEGGNGLL | 2241 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Glu2314Lys | c.6940G>A | Unknown | SIFT: Polyphen: |