Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3239T>Ap.Leu1080GlnExon 24MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Fn 5  


Family# Affected relativesClinical featuresRemarksReference
1 2 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia Index case: >10 yrs. Pat.2 died at the age of 2 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