CNTNAP2 (Q9UHC6) variants and mutations

CNTNAP2 (also known as Q9UHC6) is a human protein-coding gene encoding a contactin-associated protein-like 2 protein. It organizes specialized neuronal membrane domains and contributes to axonal development, synaptic connectivity, and clustering of potassium channels at juxtaparanodes. Biallelic loss-of-function variants can cause severe neurodevelopmental disease with epilepsy and language impairment, while heterozygous associations are more complex. This analysis covers 2,416 CNTNAP2 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia - focal epilepsy syndrome, and Pitt-Hopkins-like syndrome. Example CNTNAP2 variants include Q2R, Q2K, and Q2*.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable CNTNAP2 variants

Examples include Q2R, Q2K, Q2*, Q2P, Q2L, Q2H, A3G, A3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.