Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1277C>A	p.Ala426Asp	Exon 11	Missense	Disease-causing	Surface site	Not tolerated	Benign	Moderately	Ig 5	The mutation severely reduces homophilic and heterophilic binding (De Angelis). Neurite outgrowth is comparable to wild type (Cheng).

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Mental retardation	Age: > 1yr	De Angelis et al. (1999), Fransen et al. (1997)

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
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
1997	Fransen et al.	L1-associated diseases: clinical geneticists divide, molecular geneticists unite	Hum. Mol. Genet.	6	1625-1632	9300653
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310