Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.630C>Gp.His210GlnExon 6MissenseDisease-causingSurface siteNot toleratedPossibly damagingModerately Ig 2 Mutation segregates with the disease. The mutation results in a partial loss of the homophilic binding activity and the neurite outgrowth (Zhao). De Angelis: loss of homophilic binding; increase of heterophilic binding; increase of expression at the cell-surface of CHO cells (De Angelis, 2002)


Family# Affected relativesClinical featuresRemarksReference
1 5 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Hydrocephalus 1/5. Died before the age of 1yr:0/5 Jouet et al. (1994), Vits et al. (1994)


1999De Angelis et al.Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities. EMBO J. 18 No. 174744-4453 10469653
2002De Angelis et al.Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression Hum. Mol. Genet. 111-12 11772994
1994Jouet et al.X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene Nat. Genet. 7402-407 7920659
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310
1994Vits et al.MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM Nat. Genet. 7408-413 7920660
1996Zhao and SiuDifferential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1 J. Biol. Chem. 2716563-6566 8636066