Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.581A>Gp.Tyr194CysExon 6MissenseDisease-causingSurface siteNot toleratedProbably damagingHighly Ig 2 Reduced stimulation of neurite outgrowth (Michelson et al)


Family# Affected relativesClinical featuresRemarksReference
1 3 Adducted thumbs, Hydrocephalus Brother with HC died at the age of 3 months Gu et al. (1996)


1996Gu et al.Five novel mutations in the L1CAM gene in families with X linked hydrocephalus J. Med. Genet. 33103-106 8929944
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