ALDH2 (P05091) variants and mutations

ALDH2 (also known as P05091) is a human protein-coding gene encoding an aldehyde dehydrogenase, mitochondrial protein. It clears acetaldehyde and other reactive aldehydes within mitochondria, limiting toxic aldehyde accumulation after alcohol exposure and oxidative stress. The common ALDH2*2 allele sharply reduces activity, causing alcohol flushing and modifying alcohol-related disease risk. This analysis covers 761 ALDH2 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes alcohol dependence, alcohol drinking, and AMED syndrome, digenic. Example ALDH2 variants include L2M, L2L, and L2F.

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 ALDH2 variants

Examples include L2M, L2L, L2F, R3C, R3P, R3S, R3G, R3H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.