title: The international society on thrombosis and haematosis von Willebrand disease database: an update.
abstract: The online locus-specific database for von Willebrand disease (VWFdb) acts as a repository for sequence variant data and associated resources for those with an interest in the disorder. It currently holds details of 561 mutations and 217 polymorphisms in the von Willebrand factor (VWF) gene. Lists can be queried and displayed by VWF region or disease type. A total of 42% of the mutations are located in the large exon 28, the most heavily studied VWF region, and mutations have been reported in all but 4 of the 51 protein-coding exons. Polymorphisms are reported in the 5' and 3' untranslated regions and in 33 exons and 35 introns. Additional resources include references linked to sequence variation entries, descriptors of each VWD type, genomic and cDNA sequences, nomenclature for VWF and its attributes, Human Genome Variation Society sequence variant nomenclature recommendations, multimer images, and related densitometry traces for type 2 VWD. Analysis of recessively inherited VWD indicates that whereas the majority (69%) of type 3 VWD patients are homozygous for their mutations, the majority (62%) of 2N patients are compound heterozygous. Comparison of missense substitutions reported as mutations with those reported as polymorphisms suggests that loss or gain of cysteine, tryptophan, methionine, or glutamate residues are more likely to result in a pathogenic effect than loss/gain of other VWF residues.
authors.affiliation: Haemostasis Research Group, Department of Cardiovascular Science, University of Sheffield, Sheffield, United Kingdom.
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Hampshire
authors.forename: Anne C
authors.initials: AC
authors.lastname: Goodeve
mesh_terms: D030541:Databases, Genetic / Q000706:statistics & numerical data* / Q000639:trends; D005787:Gene Frequency; D006801:Humans; D007391:International Cooperation; D009154:Mutation; D011110:Polymorphism, Genetic; D012955:Societies, Medical; D014842:von Willebrand Diseases / Q000145:classification / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor