Paralogue Annotation for RYR2 residue 1575

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1575
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1575

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1R1583CMalignant hyperthermiaMedium9 23035052, 19346234

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.



RYR2AQATSPNVFQFELGRIKNVMPLSAGLFKSE>H<KNPVPQCPPRLHVQFLSHVLWSRMPNQFLK1605
RYR1VLPTHQNVIQFELGKQKNIMPLSAAMFQSE>R<KNPAPQCPPRLEMQMLMPVSWSRMPNHFLQ1613
RYR3LQPTSTSLFQFELGKLKNAMPLSAAIFRSE>E<KNPVPQCPPRLDVQTIQPVLWSRMPNSFLK1509
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.His1575Tyrc.4723C>T UnknownSIFT:
Polyphen: