No paralogue variants have been mapped to residue 4249 for RYR2.
RYR2 | -----ERPEEQGPRMAFFSILTVRSALFAL>R<YNILTLMRMLSLKSLKKQMKKVKKMTVKDM | 4279 |
RYR1 | AEAGAEGAEEGAAGLEGTAATAAAGATARV>V<AAAGRALRGLSYRSLRRRVRRLRRLTAREA | 4328 |
RYR3 | SSYVLEIAGEEEEDGSLEPASAFAMACASV>K<RNVTDFLKRATLKNLRKQYRNVKKMTAKEL | 4180 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4249T | c.12746G>C | Putative Benign | SIFT: Polyphen: |