MAOB (P27338) variants and mutations

MAOB (also known as P27338) is a human protein-coding gene encoding an amine oxidase [flavin-containing] B protein. It oxidatively degrades dopamine and several trace amines, particularly in brain glial cells and other tissues. Pharmacologic inhibition increases brain dopamine availability and is used in Parkinson disease, while inherited severe deficiency is rare. This analysis covers 555 MAOB variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes Parkinson disease, major depressive disorder, and depressive disorder. Example MAOB variants include S2I, S2N, and K4I.

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 MAOB variants

Examples include S2I, S2N, K4I, D6E, G13D, G16=, M17T, A18V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.