Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1490G>A	p.Cys497Tyr	Exon 12	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Ig 5

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Hydrocephalus	Died shortly after birth	Finckh et al. (2000)
2				Gal J.

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
	Gal J.		Personal communication