No paralogue variants have been mapped to residue 2200 for RYR2.
RYR2 | TVMEVMVNVLGGGESKEITFPKMVANCCRF>L<CYFCRISRQNQKAMFDHLSYLLENSSVGLA | 2230 |
RYR1 | TVMEVMVNVLGGGESKEIRFPKMVTSCCRF>L<CYFCRISRQNQRSMFDHLSYLLENSGIG-- | 2264 |
RYR3 | TVMEVMVNVLGT-EKSQIAFPKMVASCCRF>L<CYFCRISRQNQKAMFEHLSYLLENSSVGLA | 2127 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Leu2200Phe | c.6598C>T | Unknown | SIFT: Polyphen: |