Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2822C>Tp.Pro941LeuExon 21MissenseDisease-causingSurface siteNot toleratedProbably damagingHighly Fn 4 Segregation of the mutation with the disease

Patients

Family# Affected relativesClinical featuresRemarksReference
1 6 Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia Died before the age of 1 yr: 0/3 Jouet et al. (1995a)

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
1995aJouet et al.New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome Am. J. Hum. Genet. 561304-1314 7762552
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310