OPTN (Optineurin) variants and mutations

OPTN (also known as Optineurin) is a human protein-coding gene encoding an optineurin protein. It serves as an adaptor in selective autophagy, vesicle trafficking, and inflammatory signaling and helps target damaged mitochondria or protein aggregates for clearance. Pathogenic variants can cause amyotrophic lateral sclerosis or certain glaucomas depending on the mechanism. This analysis covers 935 OPTN variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes open-angle glaucoma, amyotrophic lateral sclerosis, and familial amyotrophic lateral sclerosis. Example OPTN variants include M1K, S2F, and S2T.

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 OPTN variants

Examples include M1K, S2F, S2T, H3L, H3Y, H3R, Q4*, Q4R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.