No paralogue variants have been mapped to residue 4294 for RYR1.
RYR1 | GAGAAEAGAEGAEEGAAGLEGTAATAAAGA>T<ARVVAAAGRALRGLSYRSLRRRVRRLRRLT | 4324 |
RYR2 | ESEK-----ERPEEQGPRMAFFSILTVRSA>L<FALRYNILTLMRMLSLKSLKKQMKKVKKMT | 4275 |
RYR3 | EDEDSSYVLEIAGEEEEDGSLEPASAFAMA>C<ASVKRNVTDFLKRATLKNLRKQYRNVKKMT | 4176 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T4294M | c.12881C>T | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. Clin Genet. 2009 76(6):564-8. 19807743 | |||
p.T4294A | c.12880A>G | Benign | SIFT: Polyphen: benign |