Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1373T>Ap.Val458AspExon 11MissenseDisease-causingKey residueNot toleratedProbably damagingModerately Ig 5  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 >1 Hydrocephalus, ? Terminated pregnancy Kanemura et al (2006)

References

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