Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1490G>Ap.Cys497TyrExon 12MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 5  


Family# Affected relativesClinical featuresRemarksReference
1 1 Hydrocephalus Died shortly after birth Finckh et al. (2000)
2     Gal J.


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
 Gal J. Personal communication