Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.870C>Ap.Tyr290XExon 8NonsenseDisease-causingn.a.n.a.n.a.n.a. Ig 3 De novo in family 2?


Family# Affected relativesClinical featuresRemarksReference
1 >1 Hydrocephalus, Spastic paraplegia > 8 yrs Kanemura et al (2006)
2 1 Hydrocephalus, Spastic paraplegia   Kanemura et al (2006)


2006Kanemura et alMolecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus J Neurosurg: Pediatrics 105403-412 17328266