ADARB1

Chr 21AR

adenosine deaminase RNA specific B1

Also known as: ADAR2, DRABA2, DRADA2, NEDHYMS, RED1

NCBI Gene: 104 ENSG00000197381 UniProt: P78563 OMIM: 601218

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with hypotonia, microcephaly, and seizuresMIM #618862

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.40

LOEUF

LOF

Mechanism· predicted