Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.998C>Gp.Pro333ArgExon 9MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 4 Reduces homophilic and heterophilic binding activities (De Angelis)

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Hydrocephalus   De Angelis et al. (1999)

References

YearAuthorTitleJournalVolumePagesWeblink
1999De Angelis et al.Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities. EMBO J. 18 No. 174744-4453 10469653
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