Paralogue Annotation for RYR2 residue 383

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 383
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 383

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R367QMalignant hyperthermiaHigh9 16835904
RYR1R367LMalignant 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.



RYR2EIKYGDSVCYIQHVDTGLWLTYQSVDVKSV>R<MGSIQRKAIMHHEGHMDDGISLSRSQHEES413
RYR1EIKYGESLCFVQHVASGLWLTYAAPDPKAL>R<LGVLKKKAMLHQEGHMDDALSLTRCQQEES397
RYR3EIKYGDSVCFVQHIASGLWVTYKAQDAKTS>R<LGPLKRKVILHQEGHMDDGLTLQRCQREES405
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 383 for RYR2.