No paralogue variants have been mapped to residue 4194 for RYR2.
RYR2 | QVKESKRQFIFDVVNEGGEKEKMELFVNFC>E<DTIFEMQLAAQISESDLNERSANKEESEK- | 4223 |
RYR1 | QVKESKRQFIFDVVNEGGEAEKMELFVSFC>E<DTIFEMQIAAQISEPEGEPETDEDEGAGAA | 4268 |
RYR3 | QVKESKRQFIFDVVNEGGEQEKMELFVNFC>E<DTIFEMQLASQISESDSADRPEEEEEDEDS | 4120 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4194K | c.12580G>A | Putative Benign | SIFT: Polyphen: |