No paralogue variants have been mapped to residue 2398 for RYR1.
RYR1 | LRGEGGSGLLAAIEEAIRISEDPARDGPGI>R<RDRRREHFGEEPPEENRVHLGHAIMSFYAA | 2428 |
RYR2 | LRGEGGNGLLAAMEEAIKIAEDPSRDGPSP>N<S-GSSKTLDTEEEEDDTIHMGNAIMTFYSA | 2394 |
RYR3 | LRGEGGNGLLAAMQGAIKISENPALDLPSQ>G<Y-KREVSTGDDEEEEEIVHMGNAIMSFYSA | 2291 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2398C | c.7192C>T | Putative Benign | SIFT: Polyphen: | ||
p.R2398H | c.7193G>A | Putative Benign | SIFT: Polyphen: |