Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3543-?_(*731_?)delp.?Intron 27DeletionDisease-causingn.a.n.a.n.a.n.a. Cytopl. Deletion of at least 2 kb. 5' breakpoint lies within intron 27. Segregation of the mutation with the disease.


Family# Affected relativesClinical featuresRemarksReference
1 7 Adducted thumbs, Mental retardation, Spastic paraplegia   Macias et al. (1992), Vits et al. (1994)


1994Vits et al.MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM Nat. Genet. 7408-413 7920660