Reference details

AuthorYearJournalPagesVolumeTitleWeblink
De Angelis et al.2002Hum. Mol. Genet.1-1211Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression 11772994

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Sign.pept.Exon 1c.26G>Cp.Trp9SerMissenseDisease-causing Details
Ig 1Exon 4c.358C>Gp.Leu120ValMissenseUnknown Details
Ig 1Exon 4c.361G>Ap.Gly121SerMissenseDisease-causing Details
Ig 2Exon 6c.551G>Ap.Arg184GlnMissenseDisease-causing Details
Ig 2Exon 6c.630C>Gp.His210GlnMissenseDisease-causing Details
Ig 2Exon 6c.656T>Cp.Ile219ThrMissenseDisease-causing Details
Ig 3Exon 7c.791G>Ap.Cys264TyrMissenseDisease-causing Details
Ig 3Exon 8c.925G>Ap.Glu309LysMissenseDisease-causing Details
Ig 4Exon 9c.1108G>Ap.Gly370ArgMissenseDisease-causing Details
Ig 4Exon 9c.998C>Gp.Pro333ArgMissenseDisease-causing Details
Ig 4Exon 10c.1172T>Cp.Leu391ProMissenseDisease-causing Details
Ig 5Exon 11c.1277C>Ap.Ala426AspMissenseDisease-causing Details
Ig 5Exon 11c.1354G>Ap.Gly452ArgMissenseDisease-causing Details
Ig 6Exon 13c.1624T>Cp.Ser542ProMissenseLikely disease-causing Details
Ig 6Exon 13c.1630G>Ap.Asp544AsnMissenseDisease-causing Details
Ig 6Exon 14c.1792G>Ap.Asp598AsnMissenseDisease-causing Details
Fn 1Exon 16c.1963A>Gp.Lys655GluMissenseDisease-causing Details
Fn 1Exon 16c.2092G>Ap.Gly698ArgMissenseDisease-causing Details
Fn 2Exon 18c.2222T>Cp.Met741ThrMissenseLikely disease-causing Details
Fn 2Exon 18c.2254G>Ap.Val752MetMissenseDisease-causing Details
Fn 2Exon 18c.2302G>Tp.Val768PheMissenseDisease-causing Details
Fn 2Exon 18c.2351A>Gp.Tyr784CysMissenseDisease-causing Details
Fn 4Exon 21c.2804T>Cp.Leu935ProMissenseDisease-causing Details
Fn 4Exon 21c.2822C>Tp.Pro941LeuMissenseDisease-causing Details
Fn 5Exon 24c.3209A>Gp.Tyr1070CysMissenseDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 2 c.1630G>A p.Asp544AsnExon 13 Unknown Died > 1 yr: 2/2