Paralogue Annotation for RYR2 residue 2329

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2329
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2329

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1E2362GMalignant hyperthermiaHigh9 16835904

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.



RYR2LDFLRFAVFCNGESVEENANVVVRLLIRRP>E<CFGPALRGEGGNGLLAAMEEAIKIAEDPSR2359
RYR1LDFLRFAVFVNGESVEENANVVVRLLIRKP>E<CFGPALRGEGGSGLLAAIEEAIRISEDPAR2392
RYR3LSFLRFAVFVNSESVEENASVVVKLLIRRP>E<CFGPALRGEGGNGLLAAMQGAIKISENPAL2256
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2329 for RYR2.