Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.719C>Tp.Pro240LeuExon 7MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 3  


Family# Affected relativesClinical featuresRemarksReference
1 4 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Died before the age of 1 yr: 3/4 Gu et al. (1996)
2 2 (Dys)agenesis corpus callosum, Hirschsprung's disease ACC: 2/2, HSCR 1/2, Limb abnormalities 1/2 Basel-Vanagaite et al. (2006)


2006Basel-Vanagaite et al.Expanding the phenotypic spectrum of L1CAM-associated disease Clin Genet 69414-419 16650080
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