NLGN4X (Neuroligin-4, X-linked) variants and mutations

NLGN4X (also known as Neuroligin-4, X-linked) is a human protein-coding gene encoding a neuroligin-4, X-linked protein. It contributes to synaptic adhesion and maturation, particularly in excitatory and inhibitory neural circuits. Rare X-linked loss-of-function variants have been associated with autism and intellectual disability, but variant interpretation requires care because penetrance is variable. This analysis covers 1,513 NLGN4X variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes neurodegenerative disease, hereditary disease, and autism. Example NLGN4X variants include M1?, R3L, and R3Q.

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, ClinGen, MaveDB, LitVar.

Notable NLGN4X variants

Examples include M1?, R3L, R3Q, R3W, P4S, Q5H, Q5L, Q5R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.