Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3685T>Cp.Tyr1229HisExon 28MissenseDisease-causingn.a.Not toleratedProbably damagingHighly Cytopl.  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 Unknown Unknown   Fransen et al. (1997)

References

YearAuthorTitleJournalVolumePagesWeblink
1997Fransen et al.L1-associated diseases: clinical geneticists divide, molecular geneticists unite Hum. Mol. Genet. 61625-1632 9300653
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310