Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.935G>A	p.Cys312Tyr	Exon 8	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Ig 3	De novo?

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Hydrocephalus, ?	Severe	Kanemura et al (2006)

Year	Author	Title	Journal	Volume	Pages	Weblink
2006	Kanemura et al	Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus	J Neurosurg: Pediatrics	105	403-412	17328266