Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1108G>Ap.Gly370ArgExon 9MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 4 Family 2: the mutation segregates with the disease. No mutation was found in the normal males.


Family# Affected relativesClinical featuresRemarksReference
1 1 Unknown Hydrocephalus? Finckh et al. (2000)
2 19 Hydrocephalus, ? Family with variable manifestations of clinical symptoms from Hydrocephalus to MASA syndrome Kaepernick et al. (1994), Ruiz et al. (1995)
3     Gal J.


2002De Angelis et al.Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression Hum. Mol. Genet. 111-12 11772994
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
 Gal J. Personal communication   
1994Kaepernick et al.Clinical aspects of MASA syndrome in a large family, including expressing females Clin. Genet. 45181-185 8062435
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310
1995Ruiz et al.Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS J. Med. Genet. 32549-552 7562969