No paralogue variants have been mapped to residue 4195 for RYR2.
RYR2 | VKESKRQFIFDVVNEGGEKEKMELFVNFCE>D<TIFEMQLAAQISESDLNERSANKEESEK-- | 4223 |
RYR1 | VKESKRQFIFDVVNEGGEAEKMELFVSFCE>D<TIFEMQIAAQISEPEGEPETDEDEGAGAAE | 4269 |
RYR3 | VKESKRQFIFDVVNEGGEQEKMELFVNFCE>D<TIFEMQLASQISESDSADRPEEEEEDEDSS | 4121 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Asp4195Asn | c.12583G>A | Unknown | SIFT: Polyphen: |