Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1630G>Ap.Asp544AsnExon 13MissenseDisease-causingSurface siteNot toleratedProbably damagingHighly Ig 6 Reduces homophilic and heterophilic binding

Patients

Family# Affected relativesClinical featuresRemarksReference
1 2 Unknown Died > 1 yr: 2/2 De Angelis et al. (2002)

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