Paralogue Annotation for RYR2 residue 1135

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1135
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1135

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1Y1121CMyopathy, congenitalMedium8 20839240

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.



RYR2FETVTAGDMRVGWSRPGCQPDQELGSDERA>F<AFDGFKAQRWHQGNEHYGRSWQAGDVVGCM1165
RYR1FEAVTTGEMRVGWARPELRPDVELGADELA>Y<VFNGHRGQRWHLGSEPFGRPWQPGDVVGCM1151
RYR3FEVVTGGDMRVGWARPGCRPDVELGADDQA>F<VFEGNRGQRWHQGSGYFGRTWQPGDVVGCM1151
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 1135 for RYR2.