Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1156C>Tp.Arg386CysExon 10MissenseDisease-causingSurface siteToleratedPossibly damagingLow Ig 4  


Family# Affected relativesClinical featuresRemarksReference
1 3 Hydrocephalus, ? HSAS 3/3 Saugier-Veber et al. (1998)


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