ACCESS TO A SYLLABUS OF HUMAN HEMOGLOBIN-VARIANTS (1996) VIA THE WORLD-WIDE-WEB

Information on mutations in human hemoglobin is important in many effo rts, including understanding the pathophysiology of hemoglobin disease s, developing therapies, elucidating the dynamics of sequence alterati ons in human populations, and dissecting the details of protein struct ure/function relationships. Currently, information is available on a l arge number of mutations and variants, but is distributed among thousa nds of papers. In an effort to organize this voluminous data set, two Syllabi have been prepared compiling succinct information on human hem oglobin abnormalities. In both of these, each entry provides amino aci d and/or DNA sequence alterations, hematological and clinical data, me thodology used for characterization, ethnic distribution, and function al properties and stability of the hemoglobin, together with appropria te literature references. A Syllabus of Human Hemoglobin Variants (199 6) describes 693 abnormal hemoglobins resulting from alterations in th e alpha-, beta-, gamma-, and delta-globin chains, including special ab normalities such as double mutations, hybrid chains, elongated chains, deletions, and insertions. We have converted this resource to an elec tronic form that is accessible via the World Wide Web at the Globin Ge ne Server (http://globin.cse.psu.edu). Hyperlinks are provided from ea ch entry in the tables of variants to the corresponding full descripti on. In addition, a simple query interface allows the user to find all entries containing a designated word or phrase. We are in the process of converting A Syllabus of Thalassemia Mutations (1997) to a similar electronic format.