No paralogue variants have been mapped to residue 2402 for RYR1.
RYR1 | GGSGLLAAIEEAIRISEDPARDGPGIRRDR>R<REHFGEEPPEENRVHLGHAIMSFYAALIDL | 2432 |
RYR2 | GGNGLLAAMEEAIKIAEDPSRDGPSPNS-G>S<SKTLDTEEEEDDTIHMGNAIMTFYSALIDL | 2398 |
RYR3 | GGNGLLAAMQGAIKISENPALDLPSQGY-K>R<EVSTGDDEEEEEIVHMGNAIMSFYSALIDL | 2295 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2402W | c.7204C>T | Putative Benign | SIFT: deleterious Polyphen: benign |