No paralogue variants have been mapped to residue 2271 for RYR1.
RYR1 | RQNQRSMFDHLSYLLENSGIG--L-GMQGS>T<PLDVAAASVIDNNELALALQEQDLEKVVSY | 2301 |
RYR2 | RQNQKAMFDHLSYLLENSSVGLASPAMRGS>T<PLDVAAASVMDNNELALALREPDLEKVVRY | 2268 |
RYR3 | RQNQKAMFEHLSYLLENSSVGLASPSMRGS>T<PLDVAASSVMDNNELALSLEEPDLEKVVTY | 2165 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T2271M | c.6812C>T | Putative Benign | SIFT: Polyphen: |