Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.358C>Gp.Leu120ValExon 4MissenseUnknownSurface siteNot toleratedPossibly damagingHighly Ig 1 The mutation has no effect on homo- or heterophilic binding. It creates a potential cryptic donor splice site (predicted, not proven)


Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia   De Angelis et al. (1999)


1996Bateman et al.Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. EMBO J. 15 No. 226050-6059 8947027
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