ASH1L (Q9NR48) variants and mutations

ASH1L (also known as Q9NR48) is a human protein-coding gene encoding a histone-lysine N-methyltransferase protein. It regulates chromatin through histone methylation and helps maintain transcriptional programs during development, particularly in the nervous system. Haploinsufficiency causes an intellectual-developmental disorder frequently associated with autism, language impairment, and behavioral abnormalities. This analysis covers 3,636 ASH1L variants and mutations. Of these, 51% have computational variant effect predictions. Disease context includes intellectual disability, autosomal dominant 52, Intellectual disability, and hereditary disease. Example ASH1L variants include M1?, P3A, and N5S.

Variant analysis overview

Gene: ASH1L
Protein: Q9NR48
UniProt accession: Q9NR48
Organism: Homo sapiens
Variants analyzed: 3636
Variant scope: all variants
Completed: 2026-08-20

Variant and mutation evidence

Variant composition: 3,370 unspecified-consequence records; 1 stop lost; 80 synonymous variants; 169 missense variants; 3 stop-gained variants; 5 frameshift variants; 5 splice-region variants; 2 in-frame deletions; 1 in-frame insertions
Prediction scores: 1,869 variants have prediction scores (51% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: intellectual disability, autosomal dominant 52, Intellectual disability, hereditary disease, neurodevelopmental disorder, syndromic complex neurodevelopmental disorder, autosomal dominant non-syndromic intellectual disability, atrial fibrillation, Neurodevelopmental delay, Abnormality of the skeletal system, autism spectrum disorder, Global developmental delay, allergic rhinitis.

Protein structure and variant hotspots

Protein features: 5 domains; 8 post-translational modification sites.
Structural context: 480 variants have structural context.
PTM context: 8 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable ASH1L variants

Examples include M1?, P3A, N5S, T6S, A7D, A7V, M8I, M8V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

ASH1L analysis run — ASH1L (3,636 variants) — completed 2026-08-20