No paralogue variants have been mapped to residue 17 for RYR2.
RYR2 | MADGGE-GEDEIQFLRT>D<DEVVLQCTATIHKEQQKLCLAAEGFGNRLC | 47 |
RYR1 | MGD-AE-GEDEVQFLRT>D<DEVVLQCSATVLKEQLKLCLAAEGFGNRLC | 46 |
RYR3 | MAEGGEGGEDEIQFLRT>E<DEVVLQCIATIHKEQRKFCLAAEGLGNRLC | 48 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D17N | c.49G>A | Putative Benign | rs370488091 | SIFT: deleterious Polyphen: possibly damaging |