Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1624T>C	p.Ser542Pro	Exon 13	Missense	Likely disease-causing	Surface site	Tolerated	Benign	Low	Ig 6

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Hydrocephalus, ?		Gu et al. (1997)

Year	Author	Title	Journal	Volume	Pages	Weblink
2004	Cheng and Lemmon	Pathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate	Mol. Cell. Neurosci.	27	522-530	15555929
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