FUS (RNA-binding protein FUS) variants and mutations

FUS (also known as RNA-binding protein FUS) is a human protein-coding gene encoding a RNA-binding protein. It coordinates transcription, RNA processing, transport, and stress-granule dynamics and can shuttle between nucleus and cytoplasm. Pathogenic variants can cause amyotrophic lateral sclerosis through disturbed RNA and protein homeostasis and are also associated with frontotemporal degeneration. This analysis covers 759 FUS variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes sporadic amyotrophic lateral sclerosis, amyotrophic lateral sclerosis, and frontotemporal dementia with motor neuron disease. Example FUS variants include A2T, A2S, and A2A.

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, MaveDB, LitVar.

Notable FUS variants

Examples include A2T, A2S, A2A, S3*, S3S, N4N, N4K, D5G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.