Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1172T>C	p.Leu391Pro	Exon 10	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Moderately	Ig 4

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	Unknown	Hydrocephalus, ?		Fransen 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	Fransen et al.	The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule	Am. J. Med. Genet.	64	73-77	8826452
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310