Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1905G>C	p.Trp635Cys	Exon 15	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Fn 1	In vitro assay results: Protein accumulates in the ER, is not transported into axons, fails to promote cell-cell adhesion and neurite growth

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	3	Adducted thumbs, Hydrocephalus	Passed away, in utero, 1 and 2 months of age	Marx et al (2012)

Year	Author	Title	Journal	Volume	Pages	Weblink
2012	Marx et al	Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus	Neurogenetics	13	49-59	22222883