No paralogue variants have been mapped to residue 2295 for RYR1.
RYR1 | -GMQGSTPLDVAAASVIDNNELALALQEQD>L<EKVVSYLAGCGLQSCPMLVAKGYPDIGWNP | 2325 |
RYR2 | PAMRGSTPLDVAAASVMDNNELALALREPD>L<EKVVRYLAGCGLQSCQMLVSKGYPDIGWNP | 2292 |
RYR3 | PSMRGSTPLDVAASSVMDNNELALSLEEPD>L<EKVVTYLAGCGLQSCPMLLAKGYPDVGWNP | 2189 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2295V | c.6883C>G | Putative Benign | SIFT: Polyphen: |