No paralogue variants have been mapped to residue 1577 for RYR1.
RYR1 | LFPAVFVLPTHQNVIQFELGKQKNIMPLSA>A<MFQSERKNPAPQCPPRLEMQMLMPVSWSRM | 1607 |
RYR2 | LFPAVFAQATSPNVFQFELGRIKNVMPLSA>G<LFKSEHKNPVPQCPPRLHVQFLSHVLWSRM | 1599 |
RYR3 | VFPAVFLQPTSTSLFQFELGKLKNAMPLSA>A<IFRSEEKNPVPQCPPRLDVQTIQPVLWSRM | 1503 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1577T | c.4729G>A | Other Myopathy | rs118192120 | SIFT: Polyphen: | |
Reports | Other Myopathy | Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet. 2006 15(18):2791-803. 16940308 | |||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 |