Paralogue Annotation for RYR2 residue 2536

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2536
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2536

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1A2570EMuscular dystrophy & congenital myopathyHigh9 25987458

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.



RYR2ALSATDMALALNRYLCTAVLPLLTRCAPLF>A<GTEHHASLIDSLLHTVYRLSKGCSLTKAQR2566
RYR1TFSTTEMALALNRYLCLAVLPLITKCAPLF>A<GTEHRAIMVDSMLHTVYRLSRGRSLTKAQR2600
RYR3SLSTTEAALALNRYICSAVLPLLTRCAPLF>A<GTEHCTSLIDSTLQTIYRLSKGRSLTKAQR2463
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2536 for RYR2.