Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1417C>T	p.Arg473Cys	Exon 12	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Moderately	Ig 5

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	6	Hydrocephalus, ?	Index case HSAS; MASA 5/6	Saugier-Veber et al. (1998)
2	2	Hydrocephalus, Mental retardation, Spastic paraplegia	index case: > 10 yrs	Bertolin et al (2010)

Year	Author	Title	Journal	Volume	Pages	Weblink
2010	Bertolin et al	Novel mutations in the L1CAM gene support the complexity of L1 syndrome	J. Neurol Sc	294	124-126	20447653
2000	Kenwrick et al.	Neural cell recognition molecule L1: relating biological complexity to human disease mutations	Hum. Mol. Genet.	9	879-886	10767310
1998	Saugier-Veber et al.	Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis	Hum. Mutat.	12	259-266	9744477