No paralogue variants have been mapped to residue 2317 for RYR1.
RYR1 | ALALQEQDLEKVVSYLAGCGLQSCPMLVAK>G<YPDIGWNPCGGERYLDFLRFAVFVNGESVE | 2347 |
RYR2 | ALALREPDLEKVVRYLAGCGLQSCQMLVSK>G<YPDIGWNPVEGERYLDFLRFAVFCNGESVE | 2314 |
RYR3 | ALSLEEPDLEKVVTYLAGCGLQSCPMLLAK>G<YPDVGWNPIEGERYLSFLRFAVFVNSESVE | 2211 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2317E | c.6950G>A | Putative Benign | SIFT: Polyphen: |