UMCG

University Medical Center Groningen

Department of Genetics - L1CAM Mutation Database

Protein domains

Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Fransen et al.	1996	Am. J. Med. Genet.	73-77	64	The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule	8826452

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 2	Exon 6	c.550C>T	p.Arg184Trp	Missense	Disease-causing	Details
Ig 2	Exon 6	c.644delG	p.Gly215AlafsX21	Deletion; frameshift	Disease-causing	Details
Ig 3	Exon 7	c.712_713ins4	p.Arg238LysfsX168	Insertion; frameshift	Disease-causing	Details
Ig 4	Exon 10	c.1172T>C	p.Leu391Pro	Missense	Disease-causing	Details
Ig 4	Exon 10	c.1198delA	p.Met400TrpfsX2	Deletion; frameshift	Disease-causing	Details
Ig 4	Exon 10	c.1248delT	p.Asn416LysfsX14	Deletion; frameshift	Disease-causing	Details
n.a.	Intron 10	c.1267+1G>A	p.?	Splice site	Disease-causing	Details
Ig 6	Exon 14	c.1780delA	p.Ser594ValfsX33	Deletion; frameshift	Disease-causing	Details

Patients

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	Unknown	c.550C>T	p.Arg184Trp	Exon 6	Hydrocephalus, ?
2	Unknown	c.644delG	p.Gly215AlafsX21	Exon 6	Hydrocephalus, ?
3	Unknown	c.712_713ins4	p.Arg238LysfsX168	Exon 7	Hydrocephalus, ?
4	Unknown	c.1172T>C	p.Leu391Pro	Exon 10	Hydrocephalus, ?
5	Unknown	c.1198delA	p.Met400TrpfsX2	Exon 10	Hydrocephalus, ?
6	Unknown	c.1248delT	p.Asn416LysfsX14	Exon 10	Hydrocephalus, ?
7	Unknown	c.1267+1G>A	p.?	Intron 10	Hydrocephalus, ?
8	Unknown	c.1780delA	p.Ser594ValfsX33	Exon 14	Hydrocephalus, ?