Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.550C>Gp.Arg184GlyExon 6MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 2  


Family# Affected relativesClinical featuresRemarksReference
1 10 Adducted thumbs, Aphasia, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia Died at the age of 6 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