Low-density Lipoprotein Receptor Gene (LDLR) World-Wide Website in Familial Hypercholesterolaemia: Update, New Features and Mutation Analysis

Atherosclerosis. 2001 Jan;154(1):243-6. doi: 10.1016/s0021-9150(00)00647-x.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Databases as Topic
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Internet*
  • Mutation / genetics*
  • Receptors, LDL / genetics*


  • Receptors, LDL