Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1003T>C	p.Trp335Arg	Exon 9	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Ig 4

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	5	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	Hirschsprung disease: 1/5	Saugier-Veber et al. (1998)
2	1	Unknown		Vos et al. (2010)

Year	Author	Title	Journal	Volume	Pages	Weblink
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
2010	Vos et al.	Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis	J.Med.Genet	47(3)	169-175	19846429