No paralogue variants have been mapped to residue 1336 for RYR1.
RYR1 | ATPLAPPGLQPPAEDEARAAEPDPDYENLR>R<SAGGWSEAENGKEGTAKEGAPGGTPQAGGE | 1366 |
RYR2 | AGGLPGAGLFGPK-NDLEDYDADSDFEVLM>K<TAHGHLVPDRVDKDKEATKPEFNNHK---- | 1374 |
RYR3 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1336H | c.4007G>A | Putative Benign | SIFT: Polyphen: |