Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.791G>Ap.Cys264TyrExon 7MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 3 Segregation of the mutation with the disease. The mutation reduces homophilic and heterophilic binding (De Angelis)


Family# Affected relativesClinical featuresRemarksReference
1 5 Hydrocephalus, ? Family H2 in reference. Died before the age of 1yr: 5/5 Jouet et al. (1993a)


1999De Angelis et al.Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities. EMBO J. 18 No. 174744-4453 10469653
2002De Angelis et al.Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression Hum. Mol. Genet. 111-12 11772994
1993aJouet et al.Refining the genetic localisation of the gene for X-linked hydrocephalus within Xq28 J. Med. Genet. 30214-217 8474107
1993bJouet et al.A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS) Nat. Genet. 4331 8401576
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
2003Rünker et al.The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo J. Neurosc 23(1)277-286 12514225