No paralogue variants have been mapped to residue 4568 for RYR1.
RYR1 | GGEFWGELEVQRVKFLNYLSRNFYTLRFLA>L<FLAFAINFILLFYKVSDSPPGEDDMEGSAA | 4598 |
RYR2 | ESAFWKKIIAYQQKLLNYFARNFYNMRMLA>L<FVAFAINFILLFYKVSTSSVVEGKE----- | 4532 |
RYR3 | TANFFKGLEIYQTKLLHYLARNFYNLRFLA>L<FVAFAINFILLFYKVTEEPLEEETE----- | 4443 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4568P | c.13703T>C | Other Myopathy | rs118192131 | SIFT: Polyphen: | |
Reports | Other Myopathy | Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 129(Pt 6):1470-80. 16621918 | |||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 |