ADH1B (P00325) variants and mutations

ADH1B (also known as P00325) is a human protein-coding gene encoding an all-trans-retinol dehydrogenase [NAD(+)] protein. It oxidizes ethanol to acetaldehyde and also acts on retinol and other small alcohols. Common functional variants markedly alter ethanol clearance and influence alcohol consumption, flushing-related physiology, and susceptibility to alcohol-related disease. This analysis covers 762 ADH1B variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes alcohol dependence, gout, and alcohol drinking. Example ADH1B variants include S2G, T3I, and A4T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ADH1B variants

Examples include S2G, T3I, A4T, A4V, G5E, G5R, V7A, C10*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.