The low density lipoprotein receptor (LDLR) gene in familial hypercholesterolemia

• Mutation database. The database contains mutations of the LDLR gene.  The data is presented in several ways:
• Mutation Database: This is an Access database which can be downloaded. It can be searched on a variety of fields. 
  
  
• LDLR Sequence map: textual sequence map. The mutations are marked in position on the reference sequence and details of these are found by clicking on the relevant highlighted mutation number. The map is also annotated with functional domains and primer sequences.
  
  
• Mutation Table  A list of all LDLR mutations, with links to the sequence map, reference and ethnic incidence pages.
  
  
• Ethnicities Index  A list of mutations detected in various ethnic groups.
  
  
• Study Index  A list of studies, giving mutations discovered in each.
  
  
• Major rearrangement table: a table of deletions and insertions over 25bp in size. 
  
  
• Polymorphisms.  Data on polymorphisms detected in the LDLR gene:
  
  
• Polymorphism list contains all the known LDLR polymorphisms and microsatellite markers used today.  Links to incidence page.
  
  
• Polymorphism Incidence  Frequency data on the incidence of all polymorphic variants in various study samples. Presents aggregate incidence of each variant in FH and non-FH samples.
  
  
• Sample Table  Lists details of all study samples investigated for polymorphic variation. Includes a list of polymorphisms studied in each sample, and the name and author of the study.
  
  
• Tables of primers and oligonucleotides relevant to the LDLR gene.
• Mutation submission (electronic journal) for submission of mutation reports; which either have, will not or cannot be published as hard copy. A mutation number will be give and it is hoped to be made equivalent to a refereed journal (possible hard copy in a journal).
• Acknowledgements and Links.

There have been  accesses to this page since October 1996.