Reference details

Du et al.1998bHum. Mutat.222-23011Multiple exon screening using restriction endonucleases fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene 9521424

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 7c.807-6G>Ap.Phe269LeufsX39RNA splicing defectDisease-causing Details
n.a.Intron 10c.1268-2A>Tp.?Splice siteDisease-causing Details
n.a.Intron 11c.1379+5G>Ap.?Intronic variationLikely disease-causing Details
Fn 1Exon 16c.2072C>Ap.Ala691AspMissenseDisease-causing Details
Fn 1Exon 16c.2092G>Ap.Gly698ArgMissenseDisease-causing Details
Fn 4Exon 21c.2804T>Cp.Leu935ProMissenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.1268-2A>T p.?Intron 10 Hydrocephalus  
2 >1 c.807-6G>A p.Phe269LeufsX39Intron 7 Hydrocephalus, ? Family K8625
3 >2 c.807-6G>A p.Phe269LeufsX39Intron 7 MASA syndrome Family K8595
4 2 c.1379+5G>A p.?Intron 11 Hydrocephalus Family K8385
5 2 c.2072C>A p.Ala691AspExon 16 MASA syndrome Two brothers both MASA
6 >2 c.2092G>A p.Gly698ArgExon 16 Hydrocephalus, ? The mutation segregates with the disease
7 >2 c.2804T>C p.Leu935ProExon 21 Hydrocephalus, ? Family 8350