PMC:1852721 / 8596-9916 JSONTXT

{"project":"2_test","denotations":[{"id":"17357067-9450896-2054036","span":{"begin":704,"end":706},"obj":"9450896"},{"id":"17357067-10612815-2054036","span":{"begin":704,"end":706},"obj":"10612815"}],"text":"Beginning with hemoglobinopathies as early as the first edition (1966) and in full force by 1988 (MIM8), allelic variants (AVs) (or mutations) have been appended to the gene entries—for example, the beta-globin gene (HBB) entry (MIM +141900). At present, each AV is given a unique 10-digit number, consisting of the primary 6-digit number for the gene followed by a 4-digit extension beginning with .0001 for the first listed AV. As of December 4, 2006, the HBB entry cataloged 537 AVs of the HBB gene, numbered MIM +141900.0001 to +141900.0537. The entry of each AV consists of the title of the trait (phenotype) determined by the mutation, the gene symbol and the shorthand description of the mutation,10, 11, 12 text providing a varying amount of information on the family(ies) or population(s) studied, the details of the specific DNA change, and peculiarities of phenotype and genetics. “Allelic Variants” was selected as the heading of that section of gene entries rather than “Mutations” because, together, they represent an allelic series. Furthermore, the title of each AV is the phenotype (not the mutation), which, in some instances, can be an electrophoretic or antigenic polymorphism of an enzyme or plasma protein. The molecular bases of the variation in blood-group antigens are given as AVs, for example."}