Paralogue Annotation for RYR1 residue 1272

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1272
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1272

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR3T1272MHyperinsulinismHigh9 23869231

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 RYR1.



RYR1PQFEPVPLEHPHYEVSRVDGTVDTPPCLRL>T<HRTWGSQNSLVEMLFLRLSLPVQFHQHFRC1302
RYR2PQFLQVPSNHEHIEVTRIDGTIDSSPCLKV>T<QKSFGSQNSNTDIMFYRLSMPIECAEVFSK1316
RYR3PTFVNVPKDHPHIEVMRIDGTMDSPPCLKV>T<HKTFGTQNSNADMIYCRLSMPVECHSSFSH1302
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T1272Ic.3815C>T Putative BenignSIFT:
Polyphen: