No paralogue variants have been mapped to residue 4193 for RYR2.
RYR2 | PQVKESKRQFIFDVVNEGGEKEKMELFVNF>C<EDTIFEMQLAAQISESDLNERSANKEESEK | 4223 |
RYR1 | PQVKESKRQFIFDVVNEGGEAEKMELFVSF>C<EDTIFEMQIAAQISEPEGEPETDEDEGAGA | 4267 |
RYR3 | PQVKESKRQFIFDVVNEGGEQEKMELFVNF>C<EDTIFEMQLASQISESDSADRPEEEEEDED | 4119 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C4193W | c.12579C>G | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | CPVT | Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861 |