Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2215C>T	p.Arg739Trp	Exon 18	Missense	Unknown	Surface site	Not tolerated	Possibly damaging	Moderately	Fn 2	A nonsense mutation was found in exon 14, p.Glu596X, together with this missense mutation

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	>2	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia	p.Glu596X was also found in this patient	Finckh et al. (2000)

Year	Author	Title	Journal	Volume	Pages	Weblink
2000	Finckh et al.	Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease	Am. J. Med. Genet.	92	40-46	10797421
	Gal J.		Personal communication