COMT (Catechol O-methyltransferase) variants and mutations

COMT (also known as Catechol O-methyltransferase) is a human protein-coding gene encoding a catechol O-methyltransferase protein. It inactivates catecholamines and catechol-containing drugs through methylation, contributing to dopamine, norepinephrine, and estrogen-metabolite turnover. Common functional variants alter enzyme activity and have modest effects on catecholamine physiology and responses to some medications. This analysis covers 591 COMT variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes Parkinson disease, response to tramadol, and hair color. Example COMT variants include M1N, P2L, and P2R.

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 COMT variants

Examples include M1N, P2L, P2R, P2T, P2S, P2A, P2Q, P2P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.