Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3671C>T	p.Ser1224Leu	Exon 28	Missense	Disease-causing	n.a.	Not tolerated	Probably damaging	Highly	Cytopl.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Hydrocephalus, ?		Saugier-Veber et al. (1998)

Year	Author	Title	Journal	Volume	Pages	Weblink
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310
1998	Saugier-Veber et al.	Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis	Hum. Mutat.	12	259-266	9744477