Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2072C>Ap.Ala691AspExon 16MissenseDisease-causingKey residueNot toleratedProbably damagingModerately Fn 1  


Family# Affected relativesClinical featuresRemarksReference
1 2 MASA syndrome Two brothers both MASA Du et al. (1998b)


1998bDu et al.Multiple exon screening using restriction endonucleases fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene Hum. Mutat. 11222-230 9521424
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310