Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1262T>Ap.Val421AspExon 10MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 4  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus 1 yr Finckh et al. (2000)

References

YearAuthorTitleJournalVolumePagesWeblink
2000Finckh et al.Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease Am. J. Med. Genet. 9240-46 10797421