Paralogue Annotation for RYR1 residue 163

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 163
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 163

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2R176QArrhythmogenic right ventricular dysplasia type 2High9 11159936, 16239587, 16873551, 19226252, 22374134, 23978697, 24025405, 24136861

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.

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See full Alignment of Paralogues

Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R163Cc.487C>T Other MyopathySIFT:
ReportsOther Myopathy Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 1993 5(1):51-5. 8220423
Other Myopathy Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor. J Gen Physiol. 2001 118(3):277-90. 11524458
Other Myopathy Crystal structure of type I ryanodine receptor amino-terminal beta-trefoil domain reveals a disease-associated mutation "hot spot" loop. Proc Natl Acad Sci U S A. 2009 106(27):11040-4. doi: 10.1073/pnas.0905186106. 19541610
Other Myopathy Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156
Other Myopathy Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA. Anesthesiology. 2010 112(6):1350-4. doi: 10.1097/ALN.0b013e3181d69283. 20461000
Other Myopathy Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis. Anesth Analg. 2011 113(5):1120-8. 21965348
Other Myopathy Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia. J Med Genet. 1995 32(11):913-4. 8592342
Other Myopathy Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. J Biol Chem. 2003 278(28):25722-30. 12732639
Other Myopathy Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors. J Clin Invest. 1998 101(6):1233-42. 9502764
Other Myopathy Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells. Anesthesiology. 2013 119(1):111-8. doi: 10.1097/ALN.0b013e31828cebfe. 23459219
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
Unknown ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013 15(7):565-74. doi: 10.1038/gim.2013.73. 23788249
Unknown A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. Clin Genet. 1995 48(1):12-6. 7586638
Unknown Malignant hyperthermia and apparent heat stroke. JAMA. 2001 286(2):168-9. 11448278
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
Other Myopathy Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice. Mol Pharmacol. 2011 79(3):420-31. doi: 10.1124/mol.110.067959. 21156754
p.R163Lc.488G>T Other MyopathySIFT:
ReportsOther Myopathy Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat. 2005 26(5):413-25. 16163667
Other Myopathy Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027
p.R163Hc.488G>A Putative BenignSIFT: