Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2351A>Gp.Tyr784CysExon 18MissenseDisease-causingKey residueNot toleratedProbably damagingModerately Fn 2  


Family# Affected relativesClinical featuresRemarksReference
1 5 Adducted thumbs, Hydrocephalus, ? Death < 1 yr: 5/5 MacFarlane et al. (1997)


2002De Angelis et al.Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression Hum. Mol. Genet. 111-12 11772994
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310
1997MacFarlane et al.Nine novel L1CAM mutations in families with X-linked Hydrocephalus Hum. Mutat. 9512-518 9195224