Paralogue Annotation for RYR1 residue 61

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 61
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 61

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2L62FCatecholaminergic polymorphic ventricular tachycarHigh9 19926015, 23871484, 24025405

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.



RYR1QLKLCLAAEGFGNRLCFLEPTSNAQNVPPD>L<AICCFVLEQSLSVRALQEMLANTVEAG--V89
RYR2QQKLCLAAEGFGNRLCFLESTSNSKNVPPD>L<SICTFVLEQSLSVRALQEMLANTVEKSEGQ92
RYR3QRKFCLAAEGLGNRLCFLEPTSEAKYIPPD>L<CVCNFVLEQSLSVRALQEMLANTGENG-GE92
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L61Vc.181C>G Putative BenignSIFT:
Polyphen: