WWOX (Q9NZC7) variants and mutations

WWOX (also known as Q9NZC7) is a human protein-coding gene encoding a WW domain-containing oxidoreductase protein. It participates in cellular stress, metabolism, and transcriptional signaling and spans a common fragile site frequently altered in cancer. Biallelic loss-of-function variants cause severe developmental and epileptic encephalopathy or spinocerebellar ataxia, depending on residual function. This analysis covers 1,110 WWOX variants and mutations. Of these, 87% have computational variant effect predictions. Disease context includes autosomal recessive spinocerebellar ataxia 12, developmental and epileptic encephalopathy, 28, and undetermined early-onset epileptic encephalopathy. Example WWOX variants include M1L, M1T, and A2T.

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 WWOX variants

Examples include M1L, M1T, A2T, A2S, A2V, A2E, A2A, A3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.