DBH (Dopamine beta-hydroxylase) variants and mutations

DBH (also known as Dopamine beta-hydroxylase) is a human protein-coding gene encoding a dopamine beta-hydroxylase protein. It converts dopamine to norepinephrine inside catecholamine-containing secretory vesicles, making it essential for sympathetic and noradrenergic neurotransmission. Biallelic loss-of-function variants cause dopamine beta-hydroxylase deficiency with profound orthostatic hypotension and autonomic dysfunction. This analysis covers 1,218 DBH variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes orthostatic hypotension 1, hypertensive disorder, and essential hypertension. Example DBH variants include P2A, P2S, and P2P.

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 DBH variants

Examples include P2A, P2S, P2P, A3S, A3T, A3P, A3V, A3A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.