No paralogue variants have been mapped to residue 1014 for RYR1.
RYR1 | VDRLAENGHNVWARDRVGQGWSYSAVQDIP>A<RRNPRLVPYRLLDEATKRSNRDSLCQAVRT | 1044 |
RYR2 | VDKLAENAHNVWARDRIRQGWTYGIQQDVK>N<RRNPRLVPYTLLDDRTKKSNKDSLREAVRT | 1056 |
RYR3 | VDKLAENAHNVWAKDRIKQGWTYGIQQDLK>N<KRNPRLVPYALLDERTKKSNRDSLREAVRT | 1043 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1014V | c.3041C>T | Putative Benign | SIFT: tolerated Polyphen: benign |