This database has been compiled to provide up-to-date information about mutations of the von Hippel-Lindau (VHL) gene. It aims at making the information readily accessible to anyone interested in the genetic variations of the VHL gene, and to provide an easy way for those who investigate these variations to report their most recent findings.

The first published cDNA sequence of human liver ADSL listed an open reading frame of 1377 nucleotides (reference 4). Reevaluation of this sequence has, however, revealed that the open reading frame comprises 1452 nucleotides, and encodes a protein which is 25 amino acids longer at the N-terminus (references 5 and 6). This finding prompted relabelling of a number of previously published mutations, which is described in detail under Important note on nomenclature.

The database of VHL mutations was developed using the ‘Universal Mutation Database’ tool. It contains all mutations localized in the coding region of the VHL gene. In an attempt to standardize the numbering system used to describe VHL mutations, all mutations, which have been previously reported using the numbering scheme of Latif et al. have been renumbered. Amino acid positions are derived from the numbering system used in Kuzmin et al. who identified the VHL gene promotor and defined the initiation codon at position +71 from the original sequence described by Latif et al. When the same mutation from the same patient was reported in more than one article, only the first report was taken into account. For each mutation, information is provided at several levels: at the gene level (exon and codon number, wild type and mutant codon, mutational event, mutation name...), at the protein level (wild type and mutant amino acid...), at the clinical level (angioma, hemangioblastoma, pheochromocytoma, RCC...), at the molecular level (LOH of the second allele..) and at the histological level (Robson stage).

The list of mutations was collated from published articles and abstracts, from presentations at meetings, and from personal communications. If you use these data, please refer to Béroud et al. in your publications.

Copyright:
The UMD-VHL Locus Specific Databases constitute the intellectual property of the curators of the database. Any unauthorized copying, storage or distribution of this material without written permission from the curators would lead to copyright infringement with possible ensuing litigation.

For further details, please refer to Directive 96/9/EC of the European Parliament and of the Council of 11 March 1996 on the legal protection of databases.

	This database includes 71 references and 823 mutations ( 448 different mutations and 149 proteic variants)
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	The VHLmutations database
	Last update 13/04/06