Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.656T>C	p.Ile219Thr	Exon 6	Missense	Disease-causing	Surface site	Not tolerated	Possibly damaging	Highly	Ig 2	The mutation strongly reduces homophilic and heterophilic binding, The mutation does not affect expression at the cell-surface of CHO cells (De Angelis, 2002)

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Hydrocephalus, ?	HSAS 2/2	Saugier-Veber et al. (1998)

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
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