Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1107C>Ap.Asn369LysExon 9MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 4  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 3 (Dys)agenesis corpus callosum, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia Index case: >20 yrs Vos et al. (2010)

References

YearAuthorTitleJournalVolumePagesWeblink
2010Vos et al.Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis J.Med.Genet 47(3)169-175 19846429