Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1792G>Ap.Asp598AsnExon 14MissenseDisease-causingSurface siteNot toleratedProbably damagingHighly Ig 6 Segregation of the mutation with the disease. Reduction of heterophilic binding and almost normal homophilic binding (De Angelis). Neurite outgrowth is comparable to wild type L1 (Cheng)


Family# Affected relativesClinical featuresRemarksReference
1 3 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia   Vits et al. (1994), Winter et al. (1989)


2004Cheng and LemmonPathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate Mol. Cell. Neurosci. 27522-530 15555929
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
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