Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1445T>Cp.Leu482ProExon 12MissenseLikely disease-causingKey residueNot toleratedProbably damagingHighly Ig 5  


Family# Affected relativesClinical featuresRemarksReference
1 2 Hydrocephalus, ? Index case: died at the age of 4 months. (M) Uncle > 22yrs, MASA syndrome. Fam. HC25 in ref. 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