Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1905G>Cp.Trp635CysExon 15MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Fn 1 In vitro assay results: Protein accumulates in the ER, is not transported into axons, fails to promote cell-cell adhesion and neurite growth


Family# Affected relativesClinical featuresRemarksReference
1 3 Adducted thumbs, Hydrocephalus Passed away, in utero, 1 and 2 months of age Marx et al (2012)


2012Marx et alPathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus Neurogenetics 1349-59 22222883