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.	1997	Hum. Mol. Genet.	1625-1632	6	L1-associated diseases: clinical geneticists divide, molecular geneticists unite	9300653

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 2	Exon 5	c.404_405delinsA	p.Ala135AspfsX9	Del+ins; frameshift	Disease-causing	Details
n.a.	Intron 5	c.523+26_523+56del	p.?	RNA splicing defect	Disease-causing	Details
n.a.	Intron 5	c.524-2A>C	p.?	Splice site	Disease-causing	Details
Ig 3	Exon 7	c.803G>A	p.Gly268Asp	Missense	Disease-causing	Details
Ig 3	Exon 8	c.925G>A	p.Glu309Lys	Missense	Disease-causing	Details
n.a.	Intron 9	c.1124-1G>A	p.?	Splice site	Disease-causing	Details
n.a.	Intron 9	c.1124-1G>C	p.?	Splice site	Disease-causing	Details
n.a.	Intron 10	c.1267+1G>A	p.?	Splice site	Disease-causing	Details
Ig 5	Exon 11	c.1277C>A	p.Ala426Asp	Missense	Disease-causing	Details
Ig 5	Exon 11	c.1296_1299del4	p.Gln434ArgfsX79	Deletion; frameshift	Disease-causing	Details
Fn 2	Exon 17	c.2153 del C	p.Pro718LeufsX4	Deletion; frameshift	Disease-causing	Details
Fn 2	Exon 18	c.2430_2431delCT	p.Asp810GlufsX7	Deletion; frameshift	Disease-causing	Details
Fn 4	Exon 22	c.2885delG	p.Gly962AlafsX19	Deletion; frameshift	Disease-causing	Details
Fn 5	Exon 25	c.3323delG	p.Gly1108AlafsX3	Deletion; frameshift	Disease-causing	Details
Cytopl.	Exon 25	c.3452_3455del4	p.Tyr1151X	Deletion; frameshift	Disease-causing	Details
Cytopl.	Exon 28	c.3685T>C	p.Tyr1229His	Missense	Disease-causing	Details

Patients

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	Unknown	c.523+26_523+56del	p.?	Intron 5	Unknown
2	Unknown	c.524-2A>C	p.?	Intron 5	Unknown
3	unknown	c.803G>A	p.Gly268Asp	Exon 7	Unknown
4	Unknown	c.1124-1G>A	p.?	Intron 9	Unknown
5	Unknown	c.1124-1G>C	p.?	Intron 9	Unknown
6	Unknown	c.1267+1G>A	p.?	Intron 10	Unknown
7	1	c.1277C>A	p.Ala426Asp	Exon 11	Adducted thumbs, Mental retardation	Age: > 1yr
8	Unknown	c.1296_1299del4	p.Gln434ArgfsX79	Exon 11	Unknown
9	Unknown	c.404_405delinsA	p.Ala135AspfsX9	Exon 5	Unknown
10	unknown	c.2153 del C	p.Pro718LeufsX4	Exon 17	Unknown
11	Unknown	c.2430_2431delCT	p.Asp810GlufsX7	Exon 18	Unknown
12	Unknown	c.3323delG	p.Gly1108AlafsX3	Exon 25	Unknown
13	Unknown	c.3452_3455del4	p.Tyr1151X	Exon 25	Unknown
14	Unknown	c.3685T>C	p.Tyr1229His	Exon 28	Unknown