The LSBD-UMD-LDLR home page

In an effort to standardize the information regarding LDLR mutations, we have created a computerized database that currently contains informations about the published mutations of the low density lipoprotein recepor gene LDLR and some only reported in meetings proceedings.

For each mutation, information is provided at several levels:

Gene: exon and codon number, wild type and mutant codon, mutational event and mutation name.

Protein: wild type and mutant amino acid, affected domain, activity and mutation class.

Personal: ethnic background, age, sex, body mass index and familial history of coronary heart disease.

Clinical: values of plasma total cholesterol, LDL-cholesterol, HDL-cholesterol and triglycerids and presence or absence of xanthomas, arcu corneae and symptomatic coronary heart disease.

Impact: private, recurrent or founder.

Your team's mutations are not in this database and you want to include them?

You can enter all the data in the following field for SUBMISSION and after verification the mutation will be added in the database.

Go to LSDB-UMD-LDLR Data Submission

For more informations, The LDLR Database has been published

Software and database for the analysis of mutations in the human LDL receptor gene.
Mathilde Varret, Jean-Pierre Rabès, Gwënaelle Collod-Béroud, Claudine Junien, Catherine Boileau and Christophe Béroud. Nucl Acids Res 25 (1): 172-180 (1997). (PDF)

LDLR Database (second edition): New additions to the database and the software, and results of the first molecular analysis.
Mathilde Varret, Jean-Pierre Rabès, Rochelle Thiart, Maritha J. Kotze, Heike Baron, Ana Cenarro, Olivier Descamps, Margit Ebhart, Jean-Claude, Hondelijn, Gert M. Kostner, Yasuko Miyake; Miguel Pocovi, Hartmut Schmidt, Helena Schmidt, Herbert Schuster, Manfred Stuhrmann, Taku Yamamura, Claudine Junien, Christophe Béroud and Catherine Boileau. Nucl Acids Res 26 (1): 250-255 (1998). (PDF)

The UMD-LDLR Database: Additions to the software and 490 new entries to the database.
Villéger L, Abifadel M, Allard D, Rabès JP, Thiart R, Kotze MJ, Béroud C, Junien C, Boileau C and Varret M. Hum Mutat 20:81-87 (2002). (PDF)

To contact us

Dr Mathilde VARRET: mathilde.varret@inserm.fr
Pr Catherine BOILEAU: catherine.boileau@inserm.fr

INSERM U 698
CHU Xavier Bichat Secteur Claude Bernard
46, rue Henri Huchard
75018 Paris
FRANCE
Fax +33 1 40 25 86 02