No paralogue variants have been mapped to residue 4197 for RYR2.
RYR2 | ESKRQFIFDVVNEGGEKEKMELFVNFCEDT>I<FEMQLAAQISESDLNERSANKEESEK---- | 4223 |
RYR1 | ESKRQFIFDVVNEGGEAEKMELFVSFCEDT>I<FEMQIAAQISEPEGEPETDEDEGAGAAEAG | 4271 |
RYR3 | ESKRQFIFDVVNEGGEQEKMELFVNFCEDT>I<FEMQLASQISESDSADRPEEEEEDEDSSYV | 4123 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I4197V | c.12589A>G | Putative Benign | SIFT: Polyphen: |