No paralogue variants have been mapped to residue 3630 for RYR2.
RYR2 | VACFRMAPLYNLPRHRAVNLFLQGYEKSWI>E<TEEHYFEDKLIEDLAKPG-AEPPEEDEGTK | 3659 |
RYR1 | VACFRMTPLYNLPTHRACNMFLESYKAAWI>L<TEDHSFEDRMIDDLSKAGEQEEEEEEVEEK | 3693 |
RYR3 | VACFRMAPLYNLPRHRSINLFLHGYQRFWI>E<TEEYSFEEKLVQDLAKSPKVEEEEEEETEK | 3548 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3630Q | c.10888G>C | Putative Benign | SIFT: Polyphen: | ||
p.E3630K | c.10888G>A | Putative Benign | SIFT: Polyphen: |