Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1777G>C	p.Ala593Pro	Exon 14	Missense	Disease-causing	Key residue	Not tolerated	Possibly damaging	Highly	Ig 6

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	(Dys)agenesis corpus callosum, Hydrocephalus	Terminated pregnancy	Piccione et al. (2009)

Year	Author	Title	Journal	Volume	Pages	Weblink
2009	Piccione et al.	A novel L1CAM mutation in a fetus detected by prenatal diagnosis	Eur J Pediatr	Epub ahead of print	1-5	19685344