ATXN1 (Ataxin-1) variants and mutations

ATXN1 (also known as Ataxin-1) is a human protein-coding gene encoding an ataxin-1 protein. It participates in nuclear transcriptional and RNA-regulatory complexes in neurons. Expansion of its polyglutamine tract causes spinocerebellar ataxia type 1 through a toxic gain of function that progressively injures cerebellar and brainstem neurons. This analysis covers 1,547 ATXN1 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes spinocerebellar ataxia type 1, schizophrenia, and intelligence. Example ATXN1 variants include K2R, N4I, and N4S.

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, MaveDB, LitVar.

Notable ATXN1 variants

Examples include K2R, N4I, N4S, N4Y, Q5*, E6Q, R7L, R7W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.