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HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

2002; Wiley; Volume: 19; Issue: 3 Linguagem: Inglês

10.1002/humu.10044

1098-1004

Ross C. Hardison, David H.K. Chui, Belinda Giardine, Cathy Riemer, George P. Patrinos, Nicholas P. Anagnou, Webb Miller, Henri Wajcman,

Iron Metabolism and Disorders

Human MutationVolume 19, Issue 3 p. 225-233 Database HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server Ross C. Hardison, Corresponding Author Ross C. Hardison rch8@psu.edu Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PennsylvaniaDepartment of Biochemistry and Molecular Biology, Pennsylvania State University, 206 Althouse Laboratory, University Park, PA 16802Search for more papers by this authorDavid H.K. Chui, David H.K. Chui Department of Pathology, McMaster University, Hamilton, Ontario, CanadaSearch for more papers by this authorBelinda Giardine, Belinda Giardine Department of Computer Science and Engineering, Pennsylvania State University, University Park, PennsylvaniaSearch for more papers by this authorCathy Riemer, Cathy Riemer Department of Computer Science and Engineering, Pennsylvania State University, University Park, PennsylvaniaSearch for more papers by this authorGeorge P. Patrinos, George P. Patrinos Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The NetherlandsSearch for more papers by this authorNicholas Anagnou, Nicholas Anagnou Department of Basic Sciences, University of Crete, Heraklion, GreeceSearch for more papers by this authorWebb Miller, Webb Miller Department of Computer Science and Engineering, Pennsylvania State University, University Park, PennsylvaniaSearch for more papers by this authorHenri Wajcman, Henri Wajcman INSERM-U468, Génétique Moléculaire et Physiopathologie, Hôpital Henri Mondor, Créteil, FranceSearch for more papers by this author Ross C. Hardison, Corresponding Author Ross C. Hardison rch8@psu.edu Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PennsylvaniaDepartment of Biochemistry and Molecular Biology, Pennsylvania State University, 206 Althouse Laboratory, University Park, PA 16802Search for more papers by this authorDavid H.K. Chui, David H.K. Chui Department of Pathology, McMaster University, Hamilton, Ontario, CanadaSearch for more papers by this authorBelinda Giardine, Belinda Giardine Department of Computer Science and Engineering, Pennsylvania State University, University Park, PennsylvaniaSearch for more papers by this authorCathy Riemer, Cathy Riemer Department of Computer Science and Engineering, Pennsylvania State University, University Park, PennsylvaniaSearch for more papers by this authorGeorge P. Patrinos, George P. Patrinos Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The NetherlandsSearch for more papers by this authorNicholas Anagnou, Nicholas Anagnou Department of Basic Sciences, University of Crete, Heraklion, GreeceSearch for more papers by this authorWebb Miller, Webb Miller Department of Computer Science and Engineering, Pennsylvania State University, University Park, PennsylvaniaSearch for more papers by this authorHenri Wajcman, Henri Wajcman INSERM-U468, Génétique Moléculaire et Physiopathologie, Hôpital Henri Mondor, Créteil, FranceSearch for more papers by this author First published: 13 February 2002 https://doi.org/10.1002/humu.10044Citations: 262AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract We have constructed a relational database of hemoglobin variants and thalassemia mutations, called HbVar, which can be accessed on the web at http://globin.cse.psu.edu. Extensive information is recorded for each variant and mutation, including a description of the variant and associated pathology, hematology, electrophoretic mobility, methods of isolation, stability information, ethnic occurrence, structure studies, functional studies, and references. The initial information was derived from books by Dr. Titus Huisman and colleagues [Huisman et al., 1996, 1997, 1998]. The current database is updated regularly with the addition of new data and corrections to previous data. Queries can be formulated based on fields in the database. Tables of common categories of variants, such as all those involving the alpha1-globin gene (HBA1) or all those that result in high oxygen affinity, are maintained by automated queries on the database. Users can formulate more precise queries, such as identifying "all beta-globin variants associated with instability and found in Scottish populations." This new database should be useful for clinical diagnosis as well as in fundamental studies of hemoglobin biochemistry, globin gene regulation, and human sequence variation at these loci. Hum Mutat 19:225–233, 2002. © 2002 Wiley-Liss, Inc. Citing Literature Volume19, Issue3March 2002Pages 225-233 RelatedInformation