title: The Factor VIII Mutation Database on the World Wide Web: the haemophilia A mutation, search, test and resource site. HAMSTeRS update (version 3.0).
abstract: The HAMSTeRS WWW site was set up in 1996 in order to facilitate easy access to, and aid understanding of, the causes of haemophilia A at the molecular level; previously, the first and second text editions of the database have been published in Nucleic Acids Research. This report describes the facilities originally available at the site and the recent additions which we have made to increase its usefulness to clinicians, the molecular genetics community and structural biologists interested in factor VIII. The database (version 3.0) has been completely updated with easy submission of point mutations, deletions and insertions via e-mail of custom-designed forms. The searching of point mutations in the database has been made simpler and more robust, with a concomitantly expanded real-time bioinformatic analysis of the database. A methods section devoted to mutation detection has been added, highlighting issues such as choice of technique and PCR primer sequences. Finally, a FVIII structure section gives access to 3D VRML (Virtual Reality Modelling Language) files for any user-definable residue in a FVIII A domain homology model based on the crystal structure of human caeruloplasmin, together with secondary structural data and a sound+video animation of the model. It is intended that the general availability of this model will assist both in interpretation of causative mutations and selection of candidate residues forin vitromutagenesis. The HAMSTeRS URL is http://europium.mrc.rpms.ac.uk.
authors.affiliation: Haemostasis Research Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road, London W12 ONN, UK. gkemball@hgmp.mrc.ac.uk
authors.forename: G
authors.initials: G
authors.lastname: Kemball-Cook
authors.forename: E G
authors.initials: EG
authors.lastname: Tuddenham
mesh_terms: D003195:Computer Communication Networks; D016208:Databases, Factual; D005169:Factor VIII / Q000737:chemistry / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008958:Models, Molecular; D009154:Mutation
chemical_list: D005169:Factor VIII