Paralogue Annotation for RYR1 residue 4190

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4190
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4190

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2E4146KVentricular tachycardia, polymorphicHigh5 15544015, 24025405
RYR2E4146DLong QT syndromeHigh5 26132555

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 4190 for RYR1.