ADNP (Q9H2P0) variants and mutations

ADNP (also known as Q9H2P0) is a human protein-coding gene encoding an activity-dependent neuroprotector homeobox protein. It regulates chromatin, transcription, and neuronal development through interactions with multiple nuclear and cytoskeletal partners. Heterozygous loss-of-function variants cause Helsmoortel-Van der Aa syndrome, a neurodevelopmental disorder commonly involving intellectual disability, autism-related features, and characteristic facial findings. This analysis covers 1,775 ADNP variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes ADNP-related multiple congenital anomalies - intellectual disability - autism sp, ADNP-related multiple congenital anomalies-intellectual disability-autism spectr, and hereditary disease. Example ADNP variants include M1V, Q3*, and L4*.

Variant analysis overview

Gene: ADNP
Protein: Q9H2P0
UniProt accession: Q9H2P0
Organism: Homo sapiens
Variants analyzed: 1775
Variant scope: all variants
Completed: 2026-08-19

Variant and mutation evidence

Variant composition: 1,340 unspecified-consequence records; 2 stop retained variant; 1 stop lost; 209 missense variants; 160 synonymous variants; 25 in-frame deletions; 29 frameshift variants; 5 stop-gained variants; 2 in-frame insertions; 1 protein altering variant; 1 substitution
Prediction scores: 1,205 variants have prediction scores (68% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: ADNP-related multiple congenital anomalies - intellectual disability - autism sp, ADNP-related multiple congenital anomalies-intellectual disability-autism spectr, hereditary disease, Intellectual disability, neurodegenerative disease, prostate carcinoma, Global developmental delay, neurodevelopmental disorder, Seizure, autism spectrum disorder, smoking initiation, autism.

Protein structure and variant hotspots

Protein features: 19 post-translational modification sites.
PTM context: 42 variants overlap post-translational modification sites.
Experimental data: 41 protein positions have experimental scores. Source: ADNP Homeobox domain domainome 1.0.

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 ADNP variants

Examples include M1V, Q3*, L4*, P5H, P5S, V6D, N7S, N8D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

ADNP analysis run — ADNP (1,775 variants) — completed 2026-08-19