Paralogue Annotation for RYR2 residue 2178

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2178
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2178

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1V2214IMalignant hyperthermiaHigh9 11575529, 25637381

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 RYR2.



RYR2DIMNNKVFYQHPNLMRALGMHETVMEVMVN>V<LGGGESKEITFPKMVANCCRFLCYFCRISR2208
RYR1NIMNNKVFYQHPNLMRALGMHETVMEVMVN>V<LGGGESKEIRFPKMVTSCCRFLCYFCRISR2244
RYR3DIMNNKVFYQHPNLMRVLGMHETVMEVMVN>V<LGT-EKSQIAFPKMVASCCRFLCYFCRISR2105
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V2178Ic.6532G>A Other Cardiac PhenotypeSIFT: tolerated
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. Circ Arrhythm Electrophysiol. 2012 5(4):748-56. doi: 10.1161/CIRCEP.112.970517. 22787013
Other Cardiac Phenotype New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405