CLN3 (Battenin) variants and mutations

CLN3 (also known as Battenin) is a human protein-coding gene encoding a battenin protein. It participates in lysosomal and endosomal homeostasis, membrane trafficking, and cellular lipid handling, although its complete molecular role remains unresolved. Biallelic loss-of-function variants cause juvenile neuronal ceroid lipofuscinosis, with progressive vision loss, epilepsy, cognitive decline, and motor impairment. This analysis covers 844 CLN3 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes neuronal ceroid lipofuscinosis 3, CLN3 disease, and neuronal ceroid lipofuscinosis. Example CLN3 variants include M1I, M1L, and M1T.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable CLN3 variants

Examples include M1I, M1L, M1T, M1V, G2R, G3D, G3R, G3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.