Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1003T>Cp.Trp335ArgExon 9MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 4  


Family# Affected relativesClinical featuresRemarksReference
1 5 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Hirschsprung disease: 1/5 Saugier-Veber et al. (1998)
2 1 Unknown   Vos et al. (2010)


2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310
1998Saugier-Veber et al.Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis Hum. Mutat. 12259-266 9744477
2010Vos et al.Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis J.Med.Genet 47(3)169-175 19846429