Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.550C>Tp.Arg184TrpExon 6MissenseDisease-causingKey residueNot tolerated Highly Ig 2  


Family# Affected relativesClinical featuresRemarksReference
1 Unknown Hydrocephalus, ?   Fransen et al. (1996)
2 >2 Hydrocephalus Oldest mutation carrier: 1 yr Finckh et al. (2000)
3 1 (Dys)agenesis corpus callosum   Graf et al. (2000)


2000Finckh et al.Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease Am. J. Med. Genet. 9240-46 10797421
1996Fransen et al.The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule Am. J. Med. Genet. 6473-77 8826452
2000Graf et al.Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus Ann. Neurol. 47113-117 10632110
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310
2002Michelson et al.Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons Hum. Mutat. 20481-482 12442287