Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1624T>Cp.Ser542ProExon 13MissenseLikely disease-causingSurface siteToleratedBenignLow Ig 6  


Family# Affected relativesClinical featuresRemarksReference
1 2 Hydrocephalus, ?   Gu et al. (1997)


2004Cheng and LemmonPathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate Mol. Cell. Neurosci. 27522-530 15555929
2002De Angelis et al.Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression Hum. Mol. Genet. 111-12 11772994
1997Gu et al.Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus reveals eight novel mutations and suggests non-allelic genetic heterogeneity of the trait Am. J. Med. Genet. 71336-340 9268105
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310