Paralogue Annotation for RYR1 residue 4135

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4135
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4135

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2A4091VCatecholaminergic polymorphic ventricular tachycarHigh9 19398665, 24025405
RYR2A4091TCatecholaminergic polymorphic ventricular tachycarHigh9 19398665, 24025405, 23985380

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.



RYR1PEIQFLLSCSEADENEMINCEEFANRFQEP>A<RDIGFNVAVLLTNLSEHVPHDPRLHNFLEL4165
RYR2SETEFLLSCAETDENETLDYEEFVKRFHEP>A<KDIGFNVAVLLTNLSEHMPNDTRLQTFLEL4121
RYR3SEIDFLLSCAEADENDMFNYVDFVDRFHEP>A<KDIGFNVAVLLTNLSEHMPNDSRLKCLLDP4017
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4135 for RYR1.