Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1172T>Cp.Leu391ProExon 10MissenseDisease-causingKey residueNot toleratedProbably damagingModerately Ig 4  


Family# Affected relativesClinical featuresRemarksReference
1 Unknown Hydrocephalus, ?   Fransen 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
1996Fransen et al.The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule Am. J. Med. Genet. 6473-77 8826452
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310