No paralogue variants have been mapped to residue 1319 for RYR1.
RYR1 | RLSLPVQFHQHFRCTAGATPLAPPGLQPPA>E<DEARAAEPDPDYENLRRSAGGWSEAENGKE | 1349 |
RYR2 | RLSMPIECAEVFSKTV-AGGLPGAGLFGPK>-<NDLEDYDADSDFEVLMKTAHGHLVPDRVDK | 1361 |
RYR3 | RLSMPVECHSSFSH---------------->-<------------------------------ | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1319K | c.3955G>A | Putative Benign | SIFT: Polyphen: |