No paralogue variants have been mapped to residue 2347 for RYR1.
RYR1 | GYPDIGWNPCGGERYLDFLRFAVFVNGESV>E<ENANVVVRLLIRKPECFGPALRGEGGSGLL | 2377 |
RYR2 | GYPDIGWNPVEGERYLDFLRFAVFCNGESV>E<ENANVVVRLLIRRPECFGPALRGEGGNGLL | 2344 |
RYR3 | GYPDVGWNPIEGERYLSFLRFAVFVNSESV>E<ENASVVVKLLIRRPECFGPALRGEGGNGLL | 2241 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2347K | c.7039G>A | Putative Benign | SIFT: Polyphen: | ||
p.E2347A | c.7040A>C | Putative Benign | SIFT: Polyphen: |