Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1546G>Ap.Asp516AsnExon 12MissenseLikely disease-causingSurface siteToleratedBenignLow Ig 6 De novo in mother. Affects RNA splicing most likely

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia > 3 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