Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2302G>Ap.Val768IleExon 18MissenseLikely non disease-causingKey residueToleratedBenignModerately Fn 2 Mutation was also found in two unaffected males in the family (34yrs and 5 yrs)


Family# Affected relativesClinical featuresRemarksReference
1 5 Hydrocephalus, Mental retardation 3/5 have HC Gu et al. (1997)


1997Gu et al.Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus reveals eight novel mutations and suggests non-allelic genetic heterogeneity of the trait Am. J. Med. Genet. 71336-340 9268105
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310