Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.358C>G	p.Leu120Val	Exon 4	Missense	Unknown	Surface site	Not tolerated	Possibly damaging	Highly	Ig 1	The mutation has no effect on homo- or heterophilic binding. It creates a potential cryptic donor splice site (predicted, not proven)

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia		De Angelis et al. (1999)

Year	Author	Title	Journal	Volume	Pages	Weblink
1996	Bateman et al.	Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.	EMBO J.	15 No. 22	6050-6059	8947027
1999	De Angelis et al.	Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.	EMBO J.	18 No. 17	4744-4453	10469653
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