No paralogue variants have been mapped to residue 3689 for RYR1.
RYR1 | AAWILTEDHSFEDRMIDDLSKAGEQEEEEE>E<VEEKKPDPLHQLVLHFSRTALTEKSKLDED | 3719 |
RYR2 | KSWIETEEHYFEDKLIEDLAKPG-AEPPEE>D<EGTKRVDPLHQLILLFSRTALTEKCKLEED | 3685 |
RYR3 | RFWIETEEYSFEEKLVQDLAKSPKVEEEEE>E<ETEKQPDPLHQIILYFSRNALTERSKLEDD | 3574 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3689D | c.11067G>C | Putative Benign | SIFT: Polyphen: |