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DEE86
Chr 3ARDALR anticodon binding domain containing 3
Also known as: DEE86, EIEE86
The protein contains a DALR anticodon binding domain similar to class Ia aminoacyl tRNA synthetases, though its exact function remains unknown. Mutations cause developmental and epileptic encephalopathy 86, which follows autosomal recessive inheritance. The condition involves both developmental delays and epilepsy, with preferential testis expression of the gene suggesting potential reproductive system involvement.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE86?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DEE86 · protein map & ClinVar variants
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3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
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External Resources
Links to major genomics databases and tools