No paralogue variants have been mapped to residue 1009 for RYR2.
RYR2 | APMDLSFIKLTPSQEAMVDKLAENAHNVWA>R<DRIRQGWTYGIQQDVKNRRNPRLVPYTLLD | 1039 |
RYR1 | APLDLSHVRLTPAQTTLVDRLAENGHNVWA>R<DRVGQGWSYSAVQDIPARRNPRLVPYRLLD | 1027 |
RYR3 | APLDLSDVKLLPPQEILVDKLAENAHNVWA>K<DRIKQGWTYGIQQDLKNKRNPRLVPYALLD | 1026 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1009W | c.3025C>T | Putative Benign | rs368040638 | SIFT: deleterious Polyphen: probably damaging | |
p.R1009Q | c.3026G>A | Putative Benign | SIFT: Polyphen: |