Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1963A>G	p.Lys655Glu	Exon 16	Missense	Disease-causing	Surface site	Tolerated	Benign	Moderately	Fn 1

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	unknown	Hydrocephalus, ?		Izumoto et al. (1996)

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
1996	Izumoto et al.	A new mutation of the L1CAM gene in an X-linked hydrocephalus family	Child's Nerv Syst	12	742-747	9118141
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310