No paralogue variants have been mapped to residue 1028 for RYR1.
RYR1 | DRVGQGWSYSAVQDIPARRNPRLVPYRLLD>E<ATKRSNRDSLCQAVRTLLGYGYNIEPPDQE | 1058 |
RYR2 | DRIRQGWTYGIQQDVKNRRNPRLVPYTLLD>D<RTKKSNKDSLREAVRTLLGYGYNLEAPDQD | 1070 |
RYR3 | DRIKQGWTYGIQQDLKNKRNPRLVPYALLD>E<RTKKSNRDSLREAVRTFVGYGYNIEPSDQE | 1057 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1028D | c.3084A>C | Putative Benign | SIFT: Polyphen: |