Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1445T>C	p.Leu482Pro	Exon 12	Missense	Likely disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Ig 5

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Hydrocephalus, ?	Index case: died at the age of 4 months. (M) Uncle > 22yrs, MASA syndrome. Fam. HC25 in ref.	Gu et al. (1997)

Year	Author	Title	Journal	Volume	Pages	Weblink
1997	Gu et al.	Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus reveals eight novel mutations and suggests non-allelic genetic heterogeneity of the trait	Am. J. Med. Genet.	71	336-340	9268105
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310