Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2092G>Ap.Gly698ArgExon 16MissenseDisease-causingKey residueNot toleratedPossibly damagingModerately Fn 1  


Family# Affected relativesClinical featuresRemarksReference
1 >2 Hydrocephalus, ? The mutation segregates with the disease Du et al. (1998b)
2 4 (Dys)agenesis corpus callosum, Hirschsprung's disease, Hydrocephalus, Mental retardation, Spastic paraplegia   Fernandez et al. (2012)


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
2012Fernandez et al.Association of X-linked Hydrocephalus and Hirschsprung disease: Report af a new patient with a mutation in the L1CAM gene Am J Med Genet A 158A816-820 22344793
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310