CSF1R (P07333) variants and mutations

CSF1R (also known as P07333) is a human protein-coding gene encoding a macrophage colony-stimulating factor 1 receptor protein. Signals from CSF1 and IL-34 through this pathway are required for development, survival, and function of macrophages and microglia. Pathogenic variants can cause adult-onset leukoencephalopathy with cognitive, psychiatric, and motor deterioration. This analysis covers 2,023 CSF1R variants and mutations. Of these, 57% have computational variant effect predictions. Disease context includes leukoencephalopathy, diffuse hereditary, with spheroids 1, Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia, and brain abnormalities, neurodegeneration, and dysosteosclerosis. Example CSF1R variants include G2D, V5L, and L6P.

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, MaveDB, LitVar.

Notable CSF1R variants

Examples include G2D, V5L, L6P, L6V, L7M, L7R, L8F, V11M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.