No paralogue variants have been mapped to residue 1041 for RYR2.
RYR2 | RIRQGWTYGIQQDVKNRRNPRLVPYTLLDD>R<TKKSNKDSLREAVRTLLGYGYNLEAPDQDH | 1071 |
RYR1 | RVGQGWSYSAVQDIPARRNPRLVPYRLLDE>A<TKRSNRDSLCQAVRTLLGYGYNIEPPDQEP | 1059 |
RYR3 | RIKQGWTYGIQQDLKNKRNPRLVPYALLDE>R<TKKSNRDSLREAVRTFVGYGYNIEPSDQEL | 1058 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1041Q | c.3122G>A | Putative Benign | SIFT: Polyphen: |