THE FACTOR-VIII MUTATION DATABASE ON THE WORLD-WIDE-WEB - THE HEMOPHILIA-A MUTATION, SEARCH, TEST AND RESOURCE SITE - HAMSTERS UPDATE (VERSION-3.0)

Citation
G. Kemballcook et Egd. Tuddenham, THE FACTOR-VIII MUTATION DATABASE ON THE WORLD-WIDE-WEB - THE HEMOPHILIA-A MUTATION, SEARCH, TEST AND RESOURCE SITE - HAMSTERS UPDATE (VERSION-3.0), Nucleic acids research, 25(1), 1997, pp. 128-132
Citations number
13
Categorie Soggetti
Biology
Journal title
ISSN journal
03051048
Volume
25
Issue
1
Year of publication
1997
Pages
128 - 132
Database
ISI
SICI code
0305-1048(1997)25:1<128:TFMDOT>2.0.ZU;2-K
Abstract
The HAMSTeRS WWW site was set up in 1996 in order to facilitate easy a ccess to, and aid understanding of, the causes of haemophilia A at the molecular level; previously, the first and second text editions of th e database have been published in Nucleic Acids Research, This report describes the facilities originally available at the site and the rece nt additions which we have made to increase its usefulness to clinicia ns, the molecular genetics community and structural biologists interes ted in factor VIII, The database (version 3.0) has been completely upd ated 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 concomi tantly expanded real-time bioinformatic analysis of the database, A me thods section devoted to mutation detection has been added, highlighti ng issues such as choice of technique and PCR primer sequences, Finall y, 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 caerulop lasmin, together with secondary structural data and a sound+video anim ation of the model, It is intended that the general availability of th is model will assist both in interpretation of causative mutations and selection of candidate residues for in vitro mutagenesis. The HAMSTeR S URL is http://europium.mrc.rpms.ac.uk.