UMCG

University Medical Center Groningen

Department of Genetics - L1CAM Mutation Database

Protein domains

Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
De Angelis et al.	1999	EMBO J.	4744-4453	18 No. 17	Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.	10469653

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Sign.pept.	Exon 1	c.26G>C	p.Trp9Ser	Missense	Disease-causing	Details
Ig 1	Exon 4	c.358C>G	p.Leu120Val	Missense	Unknown	Details
Ig 1	Exon 4	c.361G>A	p.Gly121Ser	Missense	Disease-causing	Details
Ig 2	Exon 6	c.551G>A	p.Arg184Gln	Missense	Disease-causing	Details
Ig 2	Exon 6	c.630C>G	p.His210Gln	Missense	Disease-causing	Details
Ig 3	Exon 7	c.791G>A	p.Cys264Tyr	Missense	Disease-causing	Details
Ig 3	Exon 8	c.925G>A	p.Glu309Lys	Missense	Disease-causing	Details
Ig 4	Exon 9	c.998C>G	p.Pro333Arg	Missense	Disease-causing	Details
Ig 5	Exon 11	c.1277C>A	p.Ala426Asp	Missense	Disease-causing	Details
Ig 5	Exon 11	c.1354G>A	p.Gly452Arg	Missense	Disease-causing	Details
Ig 6	Exon 14	c.1792G>A	p.Asp598Asn	Missense	Disease-causing	Details
Fn 2	Exon 18	c.2302G>T	p.Val768Phe	Missense	Disease-causing	Details
Fn 5	Exon 24	c.3209A>G	p.Tyr1070Cys	Missense	Disease-causing	Details

Patients

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.998C>G	p.Pro333Arg	Exon 9	Adducted thumbs, Hydrocephalus
2	1	c.358C>G	p.Leu120Val	Exon 4	Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia
3	1	c.1277C>A	p.Ala426Asp	Exon 11	Adducted thumbs, Mental retardation	Age: > 1yr