No paralogue variants have been mapped to residue 2396 for RYR1.
RYR1 | PALRGEGGSGLLAAIEEAIRISEDPARDGP>G<IRRDRRREHFGEEPPEENRVHLGHAIMSFY | 2426 |
RYR2 | PALRGEGGNGLLAAMEEAIKIAEDPSRDGP>S<PNS-GSSKTLDTEEEEDDTIHMGNAIMTFY | 2392 |
RYR3 | PALRGEGGNGLLAAMQGAIKISENPALDLP>S<QGY-KREVSTGDDEEEEEIVHMGNAIMSFY | 2289 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2396D | c.7187G>A | Putative Benign | SIFT: Polyphen: |