No paralogue variants have been mapped to residue 1333 for RYR2.
RYR2 | SMPIECAEVFSKTV-AGGLPGAGLFGPK-N>D<LEDYDADSDFEVLMKTAHGHLVPDRVDKDK | 1363 |
RYR1 | SLPVQFHQHFRCTAGATPLAPPGLQPPAED>E<ARAAEPDPDYENLRRSAGGWSEAENGKEGT | 1351 |
RYR3 | SMPVECHSSFSH------------------>-<------------------------------ | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1333N | c.3997G>A | Putative Benign | rs368281275 | SIFT: tolerated Polyphen: benign |