Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.581A>G	p.Tyr194Cys	Exon 6	Missense	Disease-causing	Surface site	Not tolerated	Probably damaging	Highly	Ig 2	Reduced stimulation of neurite outgrowth (Michelson et al)

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	Adducted thumbs, Hydrocephalus	Brother with HC died at the age of 3 months	Gu et al. (1996)

Year	Author	Title	Journal	Volume	Pages	Weblink
1996	Gu et al.	Five novel mutations in the L1CAM gene in families with X linked hydrocephalus	J. Med. Genet.	33	103-106	8929944
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