Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3685T>C	p.Tyr1229His	Exon 28	Missense	Disease-causing	n.a.	Not tolerated	Probably damaging	Highly	Cytopl.

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	Unknown	Unknown		Fransen et al. (1997)

Year	Author	Title	Journal	Volume	Pages	Weblink
1997	Fransen et al.	L1-associated diseases: clinical geneticists divide, molecular geneticists unite	Hum. Mol. Genet.	6	1625-1632	9300653
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310