MAOA (P21397) variants and mutations

MAOA (also known as P21397) is a human protein-coding gene encoding an amine oxidase [flavin-containing] A protein. It degrades serotonin, norepinephrine, dopamine, and other monoamines at the outer mitochondrial membrane and therefore strongly influences neurotransmitter turnover. Rare loss-of-function variants can cause Brunner syndrome with impulsive behavior and neurodevelopmental abnormalities, while enzyme inhibition is used therapeutically in depression. This analysis covers 534 MAOA variants and mutations. Of these, 93% have computational variant effect predictions. Disease context includes Brunner syndrome, Monoamine oxidase A deficiency, and major depressive disorder. Example MAOA variants include M1I, N3S, and Q4*.

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, ClinGen, MaveDB, LitVar.

Notable MAOA variants

Examples include M1I, N3S, Q4*, E5K, E5Q, A7V, S8G, S8N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.