Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.935G>Ap.Cys312TyrExon 8MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 3 De novo?

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Hydrocephalus, ? Severe 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