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The International Society on Thrombosis and Haematosis von Willebrand disease database: An update

Hampshire, Daniel J.; Goodeve, Anne C.


Anne C. Goodeve


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. © 2011 by Thieme Medical Publishers, Inc.


Hampshire, D. J., & Goodeve, A. C. (2011). The International Society on Thrombosis and Haematosis von Willebrand disease database: An update. Seminars in Thrombosis and Hemostasis, 37(5), 470-479.

Journal Article Type Article
Online Publication Date Nov 18, 2011
Publication Date Nov 25, 2011
Deposit Date May 24, 2022
Journal Seminars in Thrombosis and Hemostasis
Print ISSN 0094-6176
Electronic ISSN 1098-9064
Publisher Thieme Publishers
Peer Reviewed Peer Reviewed
Volume 37
Issue 5
Pages 470-479
Keywords Locus-specific database (LSDB), mutation, polymorphism, von Willebrand disease, von Willebrand factor
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