No paralogue variants have been mapped to residue 1008 for RYR1.
RYR1 | PAQTTLVDRLAENGHNVWARDRVGQGWSYS>A<VQDIPARRNPRLVPYRLLDEATKRSNRDSL | 1038 |
RYR2 | PSQEAMVDKLAENAHNVWARDRIRQGWTYG>I<QQDVKNRRNPRLVPYTLLDDRTKKSNKDSL | 1050 |
RYR3 | PPQEILVDKLAENAHNVWAKDRIKQGWTYG>I<QQDLKNKRNPRLVPYALLDERTKKSNRDSL | 1037 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1008T | c.3022G>A | Putative Benign | SIFT: Polyphen: | ||
p.A1008S | c.3022G>T | Putative Benign | SIFT: Polyphen: |