The low density lipoprotein receptor (LDLR) gene in familial hypercholesterolemia
This site has been designed to facilitate communication and convenient
availability of information for researchers analysing the LDLR gene in
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
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.