Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.516G>Ap.Met172IleExon 5MissenseLikely disease-causingSurface siteNot toleratedProbably damagingHighly Ig 2  


Family# Affected relativesClinical featuresRemarksReference
1 3 Hydrocephalus, Mental retardation, Spastic paraplegia Variation detected in 2 affected brothers and 1 affected sister. All >10 yrs Vos et al. (2010)


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