Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3581C>Tp.Ser1194LeuExon 28MissenseDisease-causingn.a.Not toleratedPossibly damagingHighly Cytopl.  


Family# Affected relativesClinical featuresRemarksReference
1 3 MASA syndrome 2 MASA patients, 1 HSAS patient (died at the age of 15 yrs) Fransen et al. (1994), Schrander-Stumpel et al. (1990)


1994Fransen et al.X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene Hum. Mol. Genet. 32255-2256 7881431
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310