Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1453C>Tp.Arg485XExon 12NonsenseDisease-causingn.a.n.a.n.a.n.a. Ig 5 Segregation of the mutation with the disease


Family# Affected relativesClinical featuresRemarksReference
1 4 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus, Mental retardation Died < 1 yr: 4/4 Jouet et al. (1994)


1994Jouet et al.X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene Nat. Genet. 7402-407 7920659