No paralogue variants have been mapped to residue 4471 for RYR2.
RYR2 | KEEKAKEDKGKQKLR--------QLHTHRY>G<EPEVPESAFWKKIIAYQQKLLNYFARNFYN | 4501 |
RYR1 | KEEVPEPTPEPPKKQ---------APPSPP>P<KKEEAGGEFWGELEVQRVKFLNYLSRNFYT | 4562 |
RYR3 | KEDKDKEEEQAEYLWTEVTKKKKRRCGQKV>E<KPEAFTANFFKGLEIYQTKLLHYLARNFYN | 4412 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4471R | c.13411G>A | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 |