No paralogue variants have been mapped to residue 2219 for RYR2.
RYR2 | FPKMVANCCRFLCYFCRISRQNQKAMFDHL>S<YLLENSSVGLASPAMRGSTPLDVAAASVMD | 2249 |
RYR1 | FPKMVTSCCRFLCYFCRISRQNQRSMFDHL>S<YLLENSGIG--L-GMQGSTPLDVAAASVID | 2282 |
RYR3 | FPKMVASCCRFLCYFCRISRQNQKAMFEHL>S<YLLENSSVGLASPSMRGSTPLDVAASSVMD | 2146 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2219N | c.6656G>A | Putative Benign | SIFT: Polyphen: |