No paralogue variants have been mapped to residue 1347 for RYR2.
RYR2 | -AGGLPGAGLFGPK-NDLEDYDADSDFEVL>M<KTAHGHLVPDRVDKDKEATKPEFNNHK--- | 1374 |
RYR1 | GATPLAPPGLQPPAEDEARAAEPDPDYENL>R<RSAGGWSEAENGKEGTAKEGAPGGTPQAGG | 1365 |
RYR3 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M1347R | c.4040T>G | Putative Benign | rs193922625 | SIFT: tolerated Polyphen: benign |