Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
De Angelis et al.	2002	Hum. Mol. Genet.	1-12	11	Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression	11772994

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details
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 2	Exon 6	c.656T>C	p.Ile219Thr	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.1108G>A	p.Gly370Arg	Missense	Disease-causing	Details
Ig 4	Exon 9	c.998C>G	p.Pro333Arg	Missense	Disease-causing	Details
Ig 4	Exon 10	c.1172T>C	p.Leu391Pro	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 13	c.1624T>C	p.Ser542Pro	Missense	Likely disease-causing	Details
Ig 6	Exon 13	c.1630G>A	p.Asp544Asn	Missense	Disease-causing	Details
Ig 6	Exon 14	c.1792G>A	p.Asp598Asn	Missense	Disease-causing	Details
Fn 1	Exon 16	c.1963A>G	p.Lys655Glu	Missense	Disease-causing	Details
Fn 1	Exon 16	c.2092G>A	p.Gly698Arg	Missense	Disease-causing	Details
Fn 2	Exon 18	c.2222T>C	p.Met741Thr	Missense	Likely disease-causing	Details
Fn 2	Exon 18	c.2254G>A	p.Val752Met	Missense	Disease-causing	Details
Fn 2	Exon 18	c.2302G>T	p.Val768Phe	Missense	Disease-causing	Details
Fn 2	Exon 18	c.2351A>G	p.Tyr784Cys	Missense	Disease-causing	Details
Fn 4	Exon 21	c.2804T>C	p.Leu935Pro	Missense	Disease-causing	Details
Fn 4	Exon 21	c.2822C>T	p.Pro941Leu	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	2	c.1630G>A	p.Asp544Asn	Exon 13	Unknown	Died > 1 yr: 2/2