No paralogue variants have been mapped to residue 4204 for RYR2.
| RYR2 | FDVVNEGGEKEKMELFVNFCEDTIFEMQLA>A<QISESDLNERSANKEESEK-----ERPEEQ | 4229 |
| RYR1 | FDVVNEGGEAEKMELFVSFCEDTIFEMQIA>A<QISEPEGEPETDEDEGAGAAEAGAEGAEEG | 4278 |
| RYR3 | FDVVNEGGEQEKMELFVNFCEDTIFEMQLA>S<QISESDSADRPEEEEEDEDSSYVLEIAGEE | 4130 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A4204V | c.12611C>T | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Recurrent ventricular fibrillation in a young female carrying a previously unidentified RyR2 gene mutation. Int J Cardiol. 2015 201:222-4. doi: 10.1016/j.ijcard.2015.08.044. 26298385 | |||
| p.Ala4204Val | c.12611C>T | Unknown | SIFT: Polyphen: | ||