DCX (O43602) variants and mutations

DCX (also known as O43602) is a human protein-coding gene encoding a neuronal migration protein doublecortin protein. It stabilizes microtubules in migrating neurons and is required for orderly cortical layering during brain development. Loss-of-function variants cause X-linked lissencephaly in males and subcortical band heterotopia in many heterozygous females. This analysis covers 668 DCX variants and mutations. Of these, 60% have computational variant effect predictions. Disease context includes lissencephaly type 1 due to doublecortin gene mutation, subcortical band heterotopia, and Non-syndromic cerebral malformation due to abnormal neuronal migration. Example DCX variants include M1T, E2K, and L3F.

Variant analysis overview

Gene: DCX
Protein: O43602
UniProt accession: O43602
Organism: Homo sapiens
Variants analyzed: 668
Variant scope: all variants
Completed: 2026-08-22

Variant and mutation evidence

Variant composition: 471 unspecified-consequence records; 2 frameshift variants; 108 synonymous variants; 74 missense variants; 3 stop-gained variants; 2 in-frame deletions; 6 splice-region variants; 2 substitution
Prediction scores: 403 variants have prediction scores (60% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: lissencephaly type 1 due to doublecortin gene mutation, subcortical band heterotopia, Non-syndromic cerebral malformation due to abnormal neuronal migration, Abnormal cortical gyration, hereditary disease, lissencephaly spectrum disorders, Lissencephaly, neurodevelopmental disorder, Abnormal cerebral morphology, Abnormality of the nervous system, fucosidosis, Intellectual disability.

Protein structure and variant hotspots

Protein features: 2 domains; 25 post-translational modification sites.
Structural context: 318 variants have structural context.
PTM context: 42 variants overlap post-translational modification sites.

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 DCX variants

Examples include M1T, E2K, L3F, L3L, H7Y, F8C, F8F, D9Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

DCX analysis run — DCX (668 variants) — completed 2026-08-22