title: Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis.
abstract: Mutations in the low density lipoprotein receptor gene (LDLR) cause familial hypercholesterolaemia (FH). The FH website (http://www.ucl. ac.uk/fh) has been updated to provide various functions enabling the analysis of the large number of LDLR mutations. To date, 683 LDLR mutations have been reported; of these 58.9% are missense mutations, 21.1% minor rearrangements, 13.5% major rearrangements and 6.6% splice site mutations. Of the 402 missense mutations, only 11.4% occurred at CpG sites. The majority of mutations were found in two functional domains, the ligand binding domain (42%) and the epidermal growth factor (EGF) precursor-like domain (47%). This report describes new features of the FH website and assesses the spectrum of mutations reported to date.
authors.affiliation: Centre for Cardiovascular Genetics, The Rayne Institute, University College Medical School, 5 University Street, WC1E 6JJ, London, UK.
authors.forename: K E
authors.initials: KE
authors.lastname: Heath
authors.forename: M
authors.initials: M
authors.lastname: Gahan
authors.forename: R A
authors.initials: RA
authors.lastname: Whittall
authors.forename: S E
authors.initials: SE
authors.lastname: Humphries
mesh_terms: D019992:Databases as Topic; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D020407:Internet; D009154:Mutation / Q000235:genetics*; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL