Paralogue Annotation for RYR2 residue 801

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 801
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 801

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R789LMyopathy, congenitalHigh9 22473935

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.



RYR2NGQPVQGMFENFNIDGLFFPVVSFSAGIKV>R<FLLGGRHGEFKFLPPPGYAPCYEAVLPKEK831
RYR1NGCPVQGVFESFNLDGLFFPVVSFSAGVKV>R<FLLGGRHGEFKFLPPPGYAPCHEAVLPRER819
RYR3NGQPVQGMFENFNTDGLFFPVMSFSAGVKV>R<FLMGGRHGEFKFLPPSGYAPCYEALLPKEK818
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R801Lc.2402G>T Putative BenignSIFT: deleterious
Polyphen: probably damaging
p.R801Cc.2401C>T UnknownSIFT:
Polyphen:
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510