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Mutation Report for: N131D_human-LCAT
Name
Class
N131D_human-LCAT
Gene_locus
human-LCAT
Mode_of_mutation
Natural mutant
Paper
Kuivenhoven_1995_J.Clin.Invest_96_2783
Disease
Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED)
Comment
p.N131D Asn131Asp c.463A>G, (N155D Asn155Asp with numbering including signal peptide) Exon 4 Phenotype (Fish Eye Disease)
Send your questions or comments to :
Mail to:
Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite:
Lenfant 2013 Nucleic.Acids.Res.
or
Marchot Chatonnet 2012 Prot.Pept Lett.
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