No paralogue variants have been mapped to residue 4203 for RYR2.
RYR2 | IFDVVNEGGEKEKMELFVNFCEDTIFEMQL>A<AQISESDLNERSANKEESEK-----ERPEE | 4228 |
RYR1 | IFDVVNEGGEAEKMELFVSFCEDTIFEMQI>A<AQISEPEGEPETDEDEGAGAAEAGAEGAEE | 4277 |
RYR3 | IFDVVNEGGEQEKMELFVNFCEDTIFEMQL>A<SQISESDSADRPEEEEEDEDSSYVLEIAGE | 4129 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala4203Val | c.12608C>T | Unknown | SIFT: Polyphen: |