Paralogue Annotation for RYR2 residue 4579

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4579
Reference Amino Acid: H - Histidine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4579

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1H4651PCentral core diseaseHigh7 12565913

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.

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See full Alignment of Paralogues

Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H4579Yc.13735C>T Inherited ArrhythmiaCPVTSIFT:
ReportsInherited ArrhythmiaCPVT Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases. Int J Legal Med. 2013 127(1):139-44. doi: 10.1007/s00414-011-0658-2. 22222782
p.His4579Glnc.13737C>A UnknownSIFT: