1. Structure of the A-subunit gene and identified mutations
Structure of the A-subunit gene and identified mutations. (Above) Exons are indicated by wide vertical bars and Roman numerals. (Center) The 5′-untranslated region (5′-UT), region coding each exon (with Roman numeral), and the 3′-noncoding region (3′-NC) of the cDNA are shown by boxes. ACT, Ca1, C, H, D, Ca2, and INA stand for the activation cleavage site, a candidate for a calcium binding site, the active site Cys314, His373, and Asp396, another candidate for a calcium-binding site, and the inactivation cleavage site, respectively. (Below) The mutations were identified in various patients with the A-subunit deficiency (former type II deficiency). Short, medium, and long vertical arrows indicate mutations with premature termination, mutations resulting in exon skipping, and missense mutations, respectively. A large deletion is depicted by a long horizontal arrow at the bottom. The mutations discussed in the text are boxed. *, premature termination; #, exon skipping; −, deletion; +, insertion; =, substitution.
Source: Disorders of Fibrinogen and Factor XIII, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: October 17, 2017
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