Paralogue Annotation for RYR1 residue 4148

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4148
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4148

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2N4104ICatecholaminergic polymorphic ventricular tachycarHigh9 16272262, 24025405
RYR2N4104KVentricular tachycardia, polymorphicHigh9 11208676, 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.

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See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 4148 for RYR1.