MAPT (P10636) variants and mutations

MAPT (also known as P10636) is a human protein-coding gene encoding a microtubule-associated protein tau protein. Its tau isoforms stabilize and organize neuronal microtubules, especially in axons, while also participating in transport and signaling. Pathogenic variants cause inherited frontotemporal dementia, and abnormal tau aggregation defines multiple neurodegenerative tauopathies. This analysis covers 1,101 MAPT variants and mutations. Of these, 39% have computational variant effect predictions. Disease context includes frontotemporal dementia, Pick disease, and supranuclear palsy, progressive, 1. Example MAPT variants include A2S, E3E, and P4L.

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, ClinGen, MaveDB, LitVar.

Notable MAPT variants

Examples include A2S, E3E, P4L, P4S, P4T, P4P, R5C, R5H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.