L1CAM (Neural cell adhesion molecule L1) variants and mutations

L1CAM (also known as Neural cell adhesion molecule L1) is a human protein-coding gene encoding a neural cell adhesion molecule L1 protein. It promotes neuronal adhesion, axon guidance, neurite growth, and fasciculation during nervous-system development. Loss-of-function variants cause L1 syndrome, encompassing X-linked hydrocephalus, MASA syndrome, spastic paraplegia, and variable intellectual disability. This analysis covers 1,359 L1CAM variants and mutations. Of these, 65% have computational variant effect predictions. Disease context includes Hydrocephalus with stenosis of the aqueduct of Sylvius, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius, and MASA syndrome. Example L1CAM variants include M1I, M1V, and V2A.

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 L1CAM variants

Examples include M1I, M1V, V2A, A4T, A4V, R6P, R6W, Y7C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.