Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1574G>Ap.Arg525HisExon 13MissenseUnknownSurface siteToleratedBenignLow Ig 6 Mutation detected in 2 affected females and 1 affected male

Patients

Family# Affected relativesClinical featuresRemarksReference
1 5 Spastic paraplegia   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