No paralogue variants have been mapped to residue 2241 for RYR1.
RYR1 | MVNVLGGGESKEIRFPKMVTSCCRFLCYFC>R<ISRQNQRSMFDHLSYLLENSGIG--L-GMQ | 2268 |
RYR2 | MVNVLGGGESKEITFPKMVANCCRFLCYFC>R<ISRQNQKAMFDHLSYLLENSSVGLASPAMR | 2235 |
RYR3 | MVNVLGT-EKSQIAFPKMVASCCRFLCYFC>R<ISRQNQKAMFEHLSYLLENSSVGLASPSMR | 2132 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2241G | c.6721C>G | Putative Benign | SIFT: Polyphen: | ||
p.R2241L | c.6722G>T | Putative Benign | SIFT: Polyphen: | ||
p.R2241Q | c.6722G>A | Putative Benign | SIFT: Polyphen: |