Paralogue Annotation for RYR2 residue 2557

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2557
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2557

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R2591GMalignant hyperthermiaMedium9 16835904
RYR1R2591WMalignant hyperthermiaMedium9 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.



RYR2LLTRCAPLFAGTEHHASLIDSLLHTVYRLS>K<GCSLTKAQRDSIEVCLLSICGQLRPSMMQH2587
RYR1LITKCAPLFAGTEHRAIMVDSMLHTVYRLS>R<GRSLTKAQRDVIEDCLMSLCRYIRPSMLQH2621
RYR3LLTRCAPLFAGTEHCTSLIDSTLQTIYRLS>K<GRSLTKAQRDTIEECLLAICNHLRPSMLQQ2484
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2557 for RYR2.