No paralogue variants have been mapped to residue 2259 for RYR1.
RYR1 | VTSCCRFLCYFCRISRQNQRSMFDHLSYLL>E<NSGIG--L-GMQGSTPLDVAAASVIDNNEL | 2286 |
RYR2 | VANCCRFLCYFCRISRQNQKAMFDHLSYLL>E<NSSVGLASPAMRGSTPLDVAAASVMDNNEL | 2253 |
RYR3 | VASCCRFLCYFCRISRQNQKAMFEHLSYLL>E<NSSVGLASPSMRGSTPLDVAASSVMDNNEL | 2150 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2259K | c.6775G>A | Putative Benign | SIFT: Polyphen: |