Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3581C>T	p.Ser1194Leu	Exon 28	Missense	Disease-causing	n.a.	Not tolerated	Possibly damaging	Highly	Cytopl.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	MASA syndrome	2 MASA patients, 1 HSAS patient (died at the age of 15 yrs)	Fransen et al. (1994), Schrander-Stumpel et al. (1990)

Year	Author	Title	Journal	Volume	Pages	Weblink
1994	Fransen et al.	X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene	Hum. Mol. Genet.	3	2255-2256	7881431
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310