last update: February 11, 2020
In this database you can find all mutations in the LDL-receptor, APOB- and PCSK9 genes, that are related to inherited hypercholesterolemia, identified by the Laboratory of Experimental Vascular Medicine until May 2016 and from that time onwards in the Genomics Laboratory of the Clinical Genetics Department, both of the Amsterdam University Medical Centers. Most mutations have been found in patients of Dutch origin, but a substantial number has been found in patients from all over the world, analyzed in our laboratory.
We have included detailed information on nucleotide position, amino acid change, country or region of origin, frequency and functionality. Additionally we have added literature references where available.
NOTE: The classification we use to characterize pathogenic variants is that of Hobbs, Russell, Brown and Goldstein in Annu. Rev. Genet. 1990; 24: 133-170. This is based on the 5 different functions of the LDL-receptor being affected by pathogenic variants: binding defect, recycling defect etc. This is NOT the classification proposed by the American College of Medical Genetics and Genomics (ACMG), based on 5 classes of pathogenicity from class 1, certainly not pathogenic, to class 5, certainly pathogenic (Genet Med. 2015;17(5):405-424).
If you can not find a mutation that is known to be present in The Netherlands, please feel free to contact
Joep Defesche so that we can update our database.
Check Tools / Advanced Database/ for a more advanced search.