Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1630G>A	p.Asp544Asn	Exon 13	Missense	Disease-causing	Surface site	Not tolerated	Probably damaging	Highly	Ig 6	Reduces homophilic and heterophilic binding

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Unknown	Died > 1 yr: 2/2	De Angelis et al. (2002)

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