Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2252G>Cp.Arg751ProExon 18MissenseDisease-causingSurface siteToleratedProbably damagingModerately Fn 2  


Family# Affected relativesClinical featuresRemarksReference
1 >2 Hydrocephalus Oldest mutation carrier: 0 yr Finckh et al. (2000)
2 1   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