No paralogue variants have been mapped to residue 1016 for RYR1.
RYR1 | RLAENGHNVWARDRVGQGWSYSAVQDIPAR>R<NPRLVPYRLLDEATKRSNRDSLCQAVRTLL | 1046 |
RYR2 | KLAENAHNVWARDRIRQGWTYGIQQDVKNR>R<NPRLVPYTLLDDRTKKSNKDSLREAVRTLL | 1058 |
RYR3 | KLAENAHNVWAKDRIKQGWTYGIQQDLKNK>R<NPRLVPYALLDERTKKSNRDSLREAVRTFV | 1045 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1016Q | c.3047G>A | Putative Benign | rs373541911 | SIFT: deleterious Polyphen: probably damaging |