No paralogue variants have been mapped to residue 1005 for RYR2.
RYR2 | GYKPAPMDLSFIKLTPSQEAMVDKLAENAH>N<VWARDRIRQGWTYGIQQDVKNRRNPRLVPY | 1035 |
RYR1 | GYKPAPLDLSHVRLTPAQTTLVDRLAENGH>N<VWARDRVGQGWSYSAVQDIPARRNPRLVPY | 1023 |
RYR3 | GYKPAPLDLSDVKLLPPQEILVDKLAENAH>N<VWAKDRIKQGWTYGIQQDLKNKRNPRLVPY | 1022 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N1005D | c.3013A>G | Putative Benign | SIFT: Polyphen: |