No paralogue variants have been mapped to residue 2403 for RYR1.
RYR1 | GSGLLAAIEEAIRISEDPARDGPGIRRDRR>R<EHFGEEPPEENRVHLGHAIMSFYAALIDLL | 2433 |
RYR2 | GNGLLAAMEEAIKIAEDPSRDGPSPNS-GS>S<KTLDTEEEEDDTIHMGNAIMTFYSALIDLL | 2399 |
RYR3 | GNGLLAAMQGAIKISENPALDLPSQGY-KR>E<VSTGDDEEEEEIVHMGNAIMSFYSALIDLL | 2296 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2403H | c.7208G>A | Putative Benign | SIFT: Polyphen: |