DEPDC5 (GATOR1 complex protein DEPDC5) variants and mutations

DEPDC5 (also known as GATOR1 complex protein DEPDC5) is a human protein-coding gene encoding a GATOR1 complex protein. It is part of the GATOR1 complex, which restrains mTORC1 activity when amino acids are limited. Loss-of-function variants cause focal epilepsy with variable penetrance and can contribute to focal cortical dysplasia through somatic second-hit events. This analysis covers 2,181 DEPDC5 variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes familial focal epilepsy with variable foci, epilepsy, familial focal, with variable foci 1, and developmental and epileptic encephalopathy 111. Example DEPDC5 variants include M1?, R2G, and R2K.

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, MaveDB, LitVar.

Notable DEPDC5 variants

Examples include M1?, R2G, R2K, T3I, T3R, T3S, p.Thr4del, T4T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.