No paralogue variants have been mapped to residue 2238 for RYR1.
RYR1 | MEVMVNVLGGGESKEIRFPKMVTSCCRFLC>Y<FCRISRQNQRSMFDHLSYLLENSGIG--L- | 2265 |
RYR2 | MEVMVNVLGGGESKEITFPKMVANCCRFLC>Y<FCRISRQNQKAMFDHLSYLLENSSVGLASP | 2232 |
RYR3 | MEVMVNVLGT-EKSQIAFPKMVASCCRFLC>Y<FCRISRQNQKAMFEHLSYLLENSSVGLASP | 2129 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y2238C | c.6713A>G | Putative Benign | SIFT: Polyphen: |