Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2222T>C	p.Met741Thr	Exon 18	Missense	Likely disease-causing	Surface site	Not tolerated	Benign	Moderately	Fn 2

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Hydrocephalus, ?		Gu et al. (1997)

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
1997	Gu et al.	Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus reveals eight novel mutations and suggests non-allelic genetic heterogeneity of the trait	Am. J. Med. Genet.	71	336-340	9268105
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310