Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3209A>Gp.Tyr1070CysExon 24MissenseDisease-causingSurface siteNot toleratedPossibly damagingModerately Fn 5 Segragation of the mutation with the disease. Increased heterophilic binding and normal homophilic binding (De Angelis) Defective in stimulating human epidermal growth factor receptor tyrosine kinase activity (Nagaraj)


Family# Affected relativesClinical featuresRemarksReference
1 4 Hydrocephalus, Mental retardation, Spastic paraplegia Died before the age of 1 yr: 1/4 Jouet et al. (1993a), Jouet et al. (1995a)


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
1993aJouet et al.Refining the genetic localisation of the gene for X-linked hydrocephalus within Xq28 J. Med. Genet. 30214-217 8474107
1995aJouet et al.New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome Am. J. Hum. Genet. 561304-1314 7762552
2009Nagaraj et al.Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR Hum. Mol. Genet. 18 (20)3822-3831 19617634