Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1277C>Ap.Ala426AspExon 11MissenseDisease-causingSurface siteNot toleratedBenignModerately Ig 5 The mutation severely reduces homophilic and heterophilic binding (De Angelis). Neurite outgrowth is comparable to wild type (Cheng).


Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Mental retardation Age: > 1yr De Angelis et al. (1999), Fransen et al. (1997)


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
1997Fransen et al.L1-associated diseases: clinical geneticists divide, molecular geneticists unite Hum. Mol. Genet. 61625-1632 9300653
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310