No paralogue variants have been mapped to residue 804 for RYR2.
RYR2 | PVQGMFENFNIDGLFFPVVSFSAGIKVRFL>L<GGRHGEFKFLPPPGYAPCYEAVLPKEKLKV | 834 |
RYR1 | PVQGVFESFNLDGLFFPVVSFSAGVKVRFL>L<GGRHGEFKFLPPPGYAPCHEAVLPRERLHL | 822 |
RYR3 | PVQGMFENFNTDGLFFPVMSFSAGVKVRFL>M<GGRHGEFKFLPPSGYAPCYEALLPKEKMRL | 821 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L804F | c.2410C>T | Putative Benign | SIFT: tolerated Polyphen: probably damaging |