Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1417C>Tp.Arg473CysExon 12MissenseDisease-causingKey residueNot toleratedProbably damagingModerately Ig 5  


Family# Affected relativesClinical featuresRemarksReference
1 6 Hydrocephalus, ? Index case HSAS; MASA 5/6 Saugier-Veber et al. (1998)
2 2 Hydrocephalus, Mental retardation, Spastic paraplegia index case: > 10 yrs Bertolin et al (2010)


2010Bertolin et alNovel mutations in the L1CAM gene support the complexity of L1 syndrome J. Neurol Sc 294124-126 20447653
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310
1998Saugier-Veber et al.Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis Hum. Mutat. 12259-266 9744477