TBP (TATA-box-binding protein) variants and mutations

TBP (also known as TATA-box-binding protein) is a human protein-coding gene encoding a TATA-box-binding protein. It binds TATA and related promoter elements as a core component of transcription-initiation complexes used by all three nuclear RNA polymerases. Expansion of its polyglutamine tract causes spinocerebellar ataxia type 17 with progressive ataxia, cognitive and psychiatric symptoms, and movement abnormalities. This analysis covers 602 TBP variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes spinocerebellar ataxia type 17, HIV infectious disease, and neurodegenerative disease. Example TBP variants include M1?, D2E, and D2N.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable TBP variants

Examples include M1?, D2E, D2N, Q3P, Q3R, N5D, N5S, S6C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.