Paralogue Annotation for RYR2 residue 4234

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4234
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4234

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1E4283VMalignant hyperthermiaLow3 16917943

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.



RYR2SDLNERSANKEESEK-----ERPEEQGPRM>A<FFSILTVRSALFALRYNILTLMRMLSLKSL4264
RYR1PEGEPETDEDEGAGAAEAGAEGAEEGAAGL>E<GTAATAAAGATARVVAAAGRALRGLSYRSL4313
RYR3SDSADRPEEEEEDEDSSYVLEIAGEEEEDG>S<LEPASAFAMACASVKRNVTDFLKRATLKNL4165
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4234Tc.12700G>A Putative BenignSIFT:
Polyphen: