Paralogue Annotation for RYR2 residue 3483

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3483
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3483

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1P3527SMulti-minicore diseaseHigh9 12112081

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.



RYR2KRKGDRYSMQTSLIVAALKRLLPIGLNICA>P<GDQELIALAKNRFSLKDTEDEVRDIIRSNI3513
RYR1KRRGDRYSVQTSLIVATLKKMLPIGLNMCA>P<TDQDLITLAKTRYALKDTDEEVREFLHNNL3557
RYR3KRRGDLYSIQTSLIVAALKKMLPIGLNMCT>P<GDQELISLAKSRYSHRDTDEEVREHLRNNL3414
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 3483 for RYR2.