Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.929A>Gp.Tyr310CysExon 8MissenseDisease-causingSurface siteNot tolerated   Ig 3  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 4 (Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation, Spastic paraplegia index case:> 54 yrs Bertolin et al (2010)

References

YearAuthorTitleJournalVolumePagesWeblink
2010Bertolin et alNovel mutations in the L1CAM gene support the complexity of L1 syndrome J. Neurol Sc 294124-126 20447653