No paralogue variants have been mapped to residue 3992 for RYR2.
RYR2 | SSQIELLKELMDLQKDMVVMLLSMLEGNVV>N<GTIGKQMVDMLVESSNNVEMILKFFDMFLK | 4022 |
RYR1 | SSQIELLKELLDLQKDMVVMLLSLLEGNVV>N<GMIARQMVDMLVESSSNVEMILKFFDMFLK | 4066 |
RYR3 | SSQIELLKELLDLLQDMVVMLLSLLEGNVV>N<GTIGKQMVDTLVESSTNVEMILKFFDMFLK | 3918 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N3992H | c.11974A>C | Putative Benign | SIFT: Polyphen: |