No paralogue variants have been mapped to residue 1000 for RYR2.
RYR2 | YQLTSGYKPAPMDLSFIKLTPSQEAMVDKL>A<ENAHNVWARDRIRQGWTYGIQQDVKNRRNP | 1030 |
RYR1 | YMMSNGYKPAPLDLSHVRLTPAQTTLVDRL>A<ENGHNVWARDRVGQGWSYSAVQDIPARRNP | 1018 |
RYR3 | YMMSNGYKPAPLDLSDVKLLPPQEILVDKL>A<ENAHNVWAKDRIKQGWTYGIQQDLKNKRNP | 1017 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1000S | c.2998G>T | Putative Benign | SIFT: Polyphen: |