TARDBP (TAR DNA-binding protein 43) variants and mutations

TARDBP (also known as TAR DNA-binding protein 43) is a human protein-coding gene encoding a TAR DNA-binding protein 43 protein. TDP-43 is an RNA-binding protein that regulates RNA processing, splicing, stability, and transport. Its normal activity supports neuronal and muscle cells, while abnormal TDP-43 accumulation is closely associated with amyotrophic lateral sclerosis and frontotemporal degeneration. This analysis covers 132 TARDBP variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes amyotrophic lateral sclerosis, familial amyotrophic lateral sclerosis, and frontotemporal dementia with motor neuron disease. Example TARDBP variants include S2A, S2T, and S2Y.

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, ClinGen, PharmGKB, MaveDB, LitVar.

Notable TARDBP variants

Examples include S2A, S2T, S2Y, S2F, S2C, Y4C, Y4Y, R6R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.