Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2721C>Tp.=Exon 20SilentNon disease-causingn.a.n.a.n.a.n.a. Fn 3 In exon 6 a disease-causing mutation was detected p.Arg184Gln


Family# Affected relativesClinical featuresRemarksReference
1 15 Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia In this family a disease-causing mutation (p.Arg184Gln) was detected in addition to the silent mutation 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