ADARB1
Chr 21ARadenosine deaminase RNA specific B1
Also known as: ADAR2, DRABA2, DRADA2, NEDHYMS, RED1
ADARB1 encodes an adenosine deaminase that catalyzes A-to-I RNA editing in double-stranded RNA, modifying the amino acid sequences of important neurotransmitter receptors including glutamate, serotonin, and GABA receptors. Biallelic mutations cause a neurodevelopmental disorder with hypotonia, microcephaly, and seizures, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.399), indicating that haploinsufficiency is likely not tolerated in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ADARB1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools