UMCG

University Medical Center Groningen

Department of Genetics - L1CAM Mutation Database

Protein domains

Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Gal J.		Personal communication

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
n.a.	Intron 3	c.197+5G>C	p.?	RNA splicing defect	Disease-causing	Details
Ig 4	Exon 9	c.1108G>A	p.Gly370Arg	Missense	Disease-causing	Details
Ig 5	Exon 12	c.1490G>A	p.Cys497Tyr	Missense	Disease-causing	Details
Ig 6	Exon 13	c.1672C>T	p.Arg558X	Nonsense	Disease-causing	Details
Fn 2	Exon 18	c.2215C>T	p.Arg739Trp	Missense	Unknown	Details
Fn 2	Exon 18	c.2252G>C	p.Arg751Pro	Missense	Disease-causing	Details

Patients

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1		c.1108G>A	p.Gly370Arg	Exon 9
2	1	c.2252G>C	p.Arg751Pro	Exon 18
3		c.1490G>A	p.Cys497Tyr	Exon 12
4		c.1672C>T	p.Arg558X	Exon 13
5		c.197+5G>C	p.?	Intron 3