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: http://ommbid.mhmedical.com/DownloadImage.aspx?image=/data/books/971/ch171fg7.png&sec=62650090&BookID=971&ChapterSecID=62649936&imagename= Accessed: October 17, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved