No paralogue variants have been mapped to residue 1015 for RYR1.
RYR1 | DRLAENGHNVWARDRVGQGWSYSAVQDIPA>R<RNPRLVPYRLLDEATKRSNRDSLCQAVRTL | 1045 |
RYR2 | DKLAENAHNVWARDRIRQGWTYGIQQDVKN>R<RNPRLVPYTLLDDRTKKSNKDSLREAVRTL | 1057 |
RYR3 | DKLAENAHNVWAKDRIKQGWTYGIQQDLKN>K<RNPRLVPYALLDERTKKSNRDSLREAVRTF | 1044 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1015C | c.3043C>T | Putative Benign | rs139006437 | SIFT: Polyphen: probably damaging |