No paralogue variants have been mapped to residue 3584 for RYR1.
RYR1 | HNNLHLQGKVEGSPSLRWQMALYRGVPGRE>E<DADDPEKIVRRV-------------QEVSA | 3601 |
RYR2 | RSNIHLQGKLE-DPAIRWQMALYKDLPNRT>D<DTSDPEKTVERVLDIANVLFHLEQKSKRVG | 3569 |
RYR3 | RNNLHLQEKSD-DPAVKWQLNLYKDVLK-S>E<EPFNPEKTVERV-------------QRISA | 3456 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3584Q | c.10750G>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 |