No paralogue variants have been mapped to residue 3597 for RYR2.
RYR2 | VGRRHYCL-VEHPQRSKKAVWHKLLSKQRK>R<AVVACFRMAPLYNLPRHRAVNLFLQGYEKS | 3627 |
RYR1 | SAVLYYLDQTEHPYKSKKAVWHKLLSKQRR>R<AVVACFRMTPLYNLPTHRACNMFLESYKAA | 3660 |
RYR3 | SAAVFHLEQVEQPLRSKKAVWHKLLSKQRK>R<AVVACFRMAPLYNLPRHRSINLFLHGYQRF | 3515 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3597K | c.10790G>A | Putative Benign | SIFT: Polyphen: |