AKT3 (Q9Y243) variants and mutations

AKT3 (also known as Q9Y243) is a human protein-coding gene encoding a RAC-gamma serine/threonine-protein kinase protein. It is especially important for growth and survival signaling in the developing brain. Activating mosaic or germline variants can cause megalencephaly and cortical malformation syndromes, while loss-of-function variants can be associated with microcephaly and neurodevelopmental impairment. This analysis covers 816 AKT3 variants and mutations. Of these, 49% have computational variant effect predictions. Disease context includes megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus, and breast cancer. Example AKT3 variants include S2R, D3E, and D3N.

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 AKT3 variants

Examples include S2R, D3E, D3N, V4I, T5A, T5I, I6N, I6V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.