Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.604G>Tp.Asp202TyrExon 6MissenseDisease-causingSurface siteNot toleratedProbably damagingHighly Ig 2  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 (Dys)agenesis corpus callosum, Adducted thumbs, Aphasia, Hydrocephalus, Mental retardation, Spastic paraplegia   Sztriha et al. (2000)

References

YearAuthorTitleJournalVolumePagesWeblink
2000Sztriha et al.Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus J. Child Neurol. 15(4)239-243 10805190