Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2351A>G	p.Tyr784Cys	Exon 18	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Moderately	Fn 2

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	5	Adducted thumbs, Hydrocephalus, ?	Death < 1 yr: 5/5	MacFarlane et al. (1997)

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
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310
1997	MacFarlane et al.	Nine novel L1CAM mutations in families with X-linked Hydrocephalus	Hum. Mutat.	9	512-518	9195224