Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2065G>Tp.Val689PheExon 16MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Fn 1  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 2 Adducted thumbs, Hydrocephalus, Spastic paraplegia > 1yr; 2/2 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