HTT (Huntingtin) variants and mutations

HTT (also known as Huntingtin) is a human protein-coding gene encoding a huntingtin protein. It participates in intracellular transport, autophagy, synaptic function, and other neuronal processes. Expansion of the CAG repeat produces an abnormally long polyglutamine tract and causes Huntington disease through a toxic gain of function. This analysis covers 3,276 HTT variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes obsessive-compulsive disorder, major depressive disorder, and depressive disorder. Example HTT variants include A2E, A2S, and A2V.

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, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable HTT variants

Examples include A2E, A2S, A2V, K6M, L7M, M8I, M8L, F11L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.