Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.88C>A	p.His30Asn	Exon 2	Missense	Unknown	n.a.	Tolerated	Benign	Moderately	None	A nonsense mutation was found in exon 2, p.Glu27X, together with this missense mutation

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	>1	Adducted thumbs, Hydrocephalus, Mental retardation	p.Glu27X 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