No paralogue variants have been mapped to residue 4793 for RYR1.
RYR1 | PGLLTWLMSIDVKYQIWKFGVIFTDNSFLY>L<GWYMVMSLLGHYNNFFFAAHLLDIAMGVKT | 4823 |
RYR2 | SSLSAVLNSIDVKYQMWKLGVVFTDNSFLY>L<AWYMTMSVLGHYNNFFFAAHLLDIAMGFKT | 4752 |
RYR3 | ASLVSWLSSIDMKYHIWKLGVVFTDNSFLY>L<AWYTTMSVLGHYNNFFFAAHLLDIAMGFKT | 4655 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4793P | c.14378T>C | Other Myopathy | rs118192179 | SIFT: Polyphen: | |
Reports | Other Myopathy | Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum Mol Genet. 2001 10(22):2581-92. 11709545 | |||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 |