Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2804T>Cp.Leu935ProExon 21MissenseDisease-causingSurface siteToleratedBenignLow Fn 4 Disease-causing? The mutation segregates with the disease. The mutation was not found on 200 control chromosomes


Family# Affected relativesClinical featuresRemarksReference
1 >2 Hydrocephalus, ? Family 8350 Du et al. (1998b)


2002De Angelis et al.Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression Hum. Mol. Genet. 111-12 11772994
1998bDu et al.Multiple exon screening using restriction endonucleases fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene Hum. Mutat. 11222-230 9521424
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310