No paralogue variants have been mapped to residue 1022 for RYR1.
RYR1 | HNVWARDRVGQGWSYSAVQDIPARRNPRLV>P<YRLLDEATKRSNRDSLCQAVRTLLGYGYNI | 1052 |
RYR2 | HNVWARDRIRQGWTYGIQQDVKNRRNPRLV>P<YTLLDDRTKKSNKDSLREAVRTLLGYGYNL | 1064 |
RYR3 | HNVWAKDRIKQGWTYGIQQDLKNKRNPRLV>P<YALLDERTKKSNRDSLREAVRTFVGYGYNI | 1051 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1022L | c.3065C>T | Putative Benign | rs144830213 | SIFT: Polyphen: probably damaging |