Paralogue Annotation for RYR2 residue 3103

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3103
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3103

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1P3138LMyopathy, congenitalHigh9 21062345

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.



RYR2ENLKQGQFTHTRNQPKGVTQIINYTTVALL>P<MLSSLFEHIGQHQFGEDLILEDVQVSCYRI3133
RYR1ENLRLGKVSQARTQVKGVGQNLTYTTVALL>P<VLTTLFQHIAQHQFGDDVILDDVQVSCYRT3168
RYR3ENLKLGKFTHSRTQIKGVSQNINYTTVALL>P<ILTSIFEHVTQHQFGMDLLLGDVQISCYHI3029
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 3103 for RYR2.