Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2222T>Cp.Met741ThrExon 18MissenseLikely disease-causingSurface siteNot toleratedBenignModerately Fn 2  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Hydrocephalus, ?   Gu et al. (1997)

References

YearAuthorTitleJournalVolumePagesWeblink
2002De Angelis et al.Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression Hum. Mol. Genet. 111-12 11772994
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