No paralogue variants have been mapped to residue 4250 for RYR2.
RYR2 | ----ERPEEQGPRMAFFSILTVRSALFALR>Y<NILTLMRMLSLKSLKKQMKKVKKMTVKDMV | 4280 |
RYR1 | EAGAEGAEEGAAGLEGTAATAAAGATARVV>A<AAGRALRGLSYRSLRRRVRRLRRLTAREAA | 4329 |
RYR3 | SYVLEIAGEEEEDGSLEPASAFAMACASVK>R<NVTDFLKRATLKNLRKQYRNVKKMTAKELV | 4181 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y4250C | c.12749A>G | Unknown | SIFT: Polyphen: benign |