Paralogue Annotation for RYR1 residue 382

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 382
Reference Amino Acid: H - Histidine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 382

No paralogue variants have been mapped to residue 382 for RYR1.



RYR1SGLWLTYAAPDPKALRLGVLKKKAMLHQEG>H<MDDALSLTRCQQEESQAARMIHSTNGLYNQ412
RYR2TGLWLTYQSVDVKSVRMGSIQRKAIMHHEG>H<MDDGISLSRSQHEESRTARVIRSTVFLFNR428
RYR3SGLWVTYKAQDAKTSRLGPLKRKVILHQEG>H<MDDGLTLQRCQREESQAARIIRNTTALFSQ420
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H382Nc.1144C>A Other MyopathySIFT:
Polyphen:
ReportsOther 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