Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.761C>Ap.Ala254AspExon 7MissenseDisease-causingKey residueNot toleratedPossibly damagingHighly Ig 3 Present in two affected males and absent in one unaffected male


Family# Affected relativesClinical featuresRemarksReference
1 4 Hydrocephalus, ? At least two boys died before birth. Vos et al. (2010)


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