Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2804T>C	p.Leu935Pro	Exon 21	Missense	Disease-causing	Surface site	Tolerated	Benign	Low	Fn 4	Disease-causing? The mutation segregates with the disease. The mutation was not found on 200 control chromosomes

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	>2	Hydrocephalus, ?	Family 8350	Du et al. (1998b)

Year	Author	Title	Journal	Volume	Pages	Weblink
2002	De Angelis et al.	Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression	Hum. Mol. Genet.	11	1-12	11772994
1998b	Du et al.	Multiple exon screening using restriction endonucleases fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene	Hum. Mutat.	11	222-230	9521424
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310