Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2215C>Tp.Arg739TrpExon 18MissenseUnknownSurface siteNot toleratedPossibly damagingModerately Fn 2 A nonsense mutation was found in exon 14, p.Glu596X, together with this missense mutation


Family# Affected relativesClinical featuresRemarksReference
1 >2 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia p.Glu596X was also found in this patient Finckh et al. (2000)


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
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