No paralogue variants have been mapped to residue 3606 for RYR1.
RYR1 | PEKIVRRV-------------QEVSAVLYY>L<DQTEHPYKSKKAVWHKLLSKQRRRAVVACF | 3636 |
RYR2 | PEKTVERVLDIANVLFHLEQKSKRVGRRHY>C<L-VEHPQRSKKAVWHKLLSKQRKRAVVACF | 3603 |
RYR3 | PEKTVERV-------------QRISAAVFH>L<EQVEQPLRSKKAVWHKLLSKQRKRAVVACF | 3491 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3606P | c.10817T>C | Other Myopathy | rs118192127 | 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 |