Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1963A>Gp.Lys655GluExon 16MissenseDisease-causingSurface siteToleratedBenignModerately Fn 1  


Family# Affected relativesClinical featuresRemarksReference
1 unknown Hydrocephalus, ?   Izumoto et al. (1996)


2002De Angelis et al.Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression Hum. Mol. Genet. 111-12 11772994
1996Izumoto et al.A new mutation of the L1CAM gene in an X-linked hydrocephalus family Child's Nerv Syst 12742-747 9118141
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310