Paralogue Annotation for RYR1 residue 552

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 552
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 552

No paralogue variants have been mapped to residue 552 for RYR1.



RYR1YELLASLIRGNRSNCALFSTNLDWLVSKLD>R<LEASSGILEVLYCVLIESPEVLNIIQENHI582
RYR2YELLAALIRGNRKNCAQFSGSLDWLISRLE>R<LEASSGILEVLHCVLVESPEALNIIKEGHI594
RYR3YKLLAALIRGNRNNCAQFSNNLDWLISKLD>R<LESSSGILEVLHCILTESPEALNLIAEGHI581
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R552Wc.1654C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. J Med Genet. 1997 34(4):291-6. 9138151
Other Myopathy Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J Biol Chem. 1997 272(42):26332-9. 9334205
Other Myopathy Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. J Biol Chem. 1999 274(2):693-702. 9873004
p.R552Qc.1655G>A Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther Disease Phenotype Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol. 2014 261(5):970-82. doi: 10.1007/s00415-014-7289-8. 24627108