NLGN3 (Neuroligin-3) variants and mutations

NLGN3 (also known as Neuroligin-3) is a human protein-coding gene encoding a neuroligin-3 protein. It organizes postsynaptic adhesion and helps align synaptic signaling machinery with presynaptic release sites. Rare pathogenic variants can cause neurodevelopmental disorders with autism-related features and intellectual disability, although phenotype and penetrance vary. This analysis covers 749 NLGN3 variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes autism spectrum disorder, autism, and hereditary disease. Example NLGN3 variants include M1R, W2C, and L3L.

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 NLGN3 variants

Examples include M1R, W2C, L3L, R4Q, R4W, R4R, L5I, L5R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.