No paralogue variants have been mapped to residue 2276 for RYR1.
RYR1 | SMFDHLSYLLENSGIG--L-GMQGSTPLDV>A<AASVIDNNELALALQEQDLEKVVSYLAGCG | 2306 |
RYR2 | AMFDHLSYLLENSSVGLASPAMRGSTPLDV>A<AASVMDNNELALALREPDLEKVVRYLAGCG | 2273 |
RYR3 | AMFEHLSYLLENSSVGLASPSMRGSTPLDV>A<ASSVMDNNELALSLEEPDLEKVVTYLAGCG | 2170 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2276V | c.6827C>T | Putative Benign | SIFT: Polyphen: |