No paralogue variants have been mapped to residue 1350 for RYR2.
RYR2 | GLPGAGLFGPK-NDLEDYDADSDFEVLMKT>A<HGHLVPDRVDKDKEATKPEFNNHK------ | 1374 |
RYR1 | PLAPPGLQPPAEDEARAAEPDPDYENLRRS>A<GGWSEAENGKEGTAKEGAPGGTPQAGGEAQ | 1368 |
RYR3 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1350V | c.4049C>T | Putative Benign | SIFT: Polyphen: |