Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1546G>Tp.Asp516TyrExon 12MissenseLikely disease-causingSurface siteNot toleratedProbably damagingLow Ig 6 Affects RNA splicing most likely

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Unknown > 15 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