Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.550C>T	p.Arg184Trp	Exon 6	Missense	Disease-causing	Key residue	Not tolerated		Highly	Ig 2

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	Unknown	Hydrocephalus, ?		Fransen et al. (1996)
2	>2	Hydrocephalus	Oldest mutation carrier: 1 yr	Finckh et al. (2000)
3	1	(Dys)agenesis corpus callosum		Graf et al. (2000)

Year	Author	Title	Journal	Volume	Pages	Weblink
2000	Finckh et al.	Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease	Am. J. Med. Genet.	92	40-46	10797421
1996	Fransen et al.	The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule	Am. J. Med. Genet.	64	73-77	8826452
2000	Graf et al.	Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus	Ann. Neurol.	47	113-117	10632110
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310
2002	Michelson et al.	Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons	Hum. Mutat.	20	481-482	12442287