Paralogue Annotation for RYR2 residue 2333

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2333
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2333

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1P2366RMalignant hyperthermiaHigh9 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.



RYR2RFAVFCNGESVEENANVVVRLLIRRPECFG>P<ALRGEGGNGLLAAMEEAIKIAEDPSRDGPS2363
RYR1RFAVFVNGESVEENANVVVRLLIRKPECFG>P<ALRGEGGSGLLAAIEEAIRISEDPARDGPG2396
RYR3RFAVFVNSESVEENASVVVKLLIRRPECFG>P<ALRGEGGNGLLAAMQGAIKISENPALDLPS2260
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P2333Tc.6997C>A Putative BenignSIFT: deleterious
Polyphen: probably damaging