Paralogue Annotation for RYR2 residue 2553

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2553
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2553

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1Y2587CCentral core diseaseHigh9 25960145

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.



RYR2AVLPLLTRCAPLFAGTEHHASLIDSLLHTV>Y<RLSKGCSLTKAQRDSIEVCLLSICGQLRPS2583
RYR1AVLPLITKCAPLFAGTEHRAIMVDSMLHTV>Y<RLSRGRSLTKAQRDVIEDCLMSLCRYIRPS2617
RYR3AVLPLLTRCAPLFAGTEHCTSLIDSTLQTI>Y<RLSKGRSLTKAQRDTIEECLLAICNHLRPS2480
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2553 for RYR2.