Paralogue Annotation for RYR1 residue 3990

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3990
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3990

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2G3946SVentricular tachycardia, polymorphicHigh9 12093772, 23595086, 24025405, 25525159
RYR2G3946DCatecholaminergic polymorphic ventricular tachycarHigh9 19398665, 24025405, 25525159
RYR2G3946ACatecholaminergic polymorphic ventricular tachycarHigh9 16688893, 24025405, 25525159

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.G3990Vc.11969G>T Other MyopathySIFT:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
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 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159