No paralogue variants have been mapped to residue 1039 for RYR2.
RYR2 | RDRIRQGWTYGIQQDVKNRRNPRLVPYTLL>D<DRTKKSNKDSLREAVRTLLGYGYNLEAPDQ | 1069 |
RYR1 | RDRVGQGWSYSAVQDIPARRNPRLVPYRLL>D<EATKRSNRDSLCQAVRTLLGYGYNIEPPDQ | 1057 |
RYR3 | KDRIKQGWTYGIQQDLKNKRNPRLVPYALL>D<ERTKKSNRDSLREAVRTFVGYGYNIEPSDQ | 1056 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1039V | c.3116A>T | Putative Benign | SIFT: Polyphen: |