No paralogue variants have been mapped to residue 2339 for RYR2.
RYR2 | NGESVEENANVVVRLLIRRPECFGPALRGE>G<GNGLLAAMEEAIKIAEDPSRDGPSPNS-GS | 2368 |
RYR1 | NGESVEENANVVVRLLIRKPECFGPALRGE>G<GSGLLAAIEEAIRISEDPARDGPGIRRDRR | 2402 |
RYR3 | NSESVEENASVVVKLLIRRPECFGPALRGE>G<GNGLLAAMQGAIKISENPALDLPSQGY-KR | 2265 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2339S | c.7015G>A | Unknown | SIFT: Polyphen: probably damaging |