Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.656T>Cp.Ile219ThrExon 6MissenseDisease-causingSurface siteNot toleratedPossibly damagingHighly Ig 2 The mutation strongly reduces homophilic and heterophilic binding, The mutation does not affect expression at the cell-surface of CHO cells (De Angelis, 2002)


Family# Affected relativesClinical featuresRemarksReference
1 2 Hydrocephalus, ? HSAS 2/2 Saugier-Veber et al. (1998)


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
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
1998Saugier-Veber et al.Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis Hum. Mutat. 12259-266 9744477