No paralogue variants have been mapped to residue 1346 for RYR1.
RYR1 | PPAEDEARAAEPDPDYENLRRSAGGWSEAE>N<GKEGTAKEGAPGGTPQAGGEAQPARAENEK | 1376 |
RYR2 | GPK-NDLEDYDADSDFEVLMKTAHGHLVPD>R<VDKDKEATKPEFNNHK-------------- | 1374 |
RYR3 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N1346K | c.4038C>G | Putative Benign | SIFT: Polyphen: | ||
p.N1346K | c.4038C>A | Unknown | SIFT: Polyphen: benign | ||
p.Asn1346Lys | c.4038C>A | Unknown | SIFT: Polyphen: |