No paralogue variants have been mapped to residue 382 for RYR1.
RYR1 | SGLWLTYAAPDPKALRLGVLKKKAMLHQEG>H<MDDALSLTRCQQEESQAARMIHSTNGLYNQ | 412 |
RYR2 | TGLWLTYQSVDVKSVRMGSIQRKAIMHHEG>H<MDDGISLSRSQHEESRTARVIRSTVFLFNR | 428 |
RYR3 | SGLWVTYKAQDAKTSRLGPLKRKVILHQEG>H<MDDGLTLQRCQREESQAARIIRNTTALFSQ | 420 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H382N | c.1144C>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases. Br J Anaesth. 2009 102(5):642-9. 19346234 | |||
Other Myopathy | Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. Anesth Analg. 2010 111(1):185-90. 20142353 |