No paralogue variants have been mapped to residue 4000 for RYR2.
RYR2 | ELMDLQKDMVVMLLSMLEGNVVNGTIGKQM>V<DMLVESSNNVEMILKFFDMFLKLKDLTSSD | 4030 |
RYR1 | ELLDLQKDMVVMLLSLLEGNVVNGMIARQM>V<DMLVESSSNVEMILKFFDMFLKLKDIVGSE | 4074 |
RYR3 | ELLDLLQDMVVMLLSLLEGNVVNGTIGKQM>V<DTLVESSTNVEMILKFFDMFLKLKDLTSSD | 3926 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4000M | c.11998G>A | Putative Benign | SIFT: Polyphen: |