Bruce L. Zuraw, MD, Jack Herschbach, BA

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Detection of C1 inhibitor mutations in patients with hereditary angioedema Bruce L. Zuraw, MD, Jack Herschbach, BA Journal of Allergy and Clinical Immunology Volume 105, Issue 3, Pages 541-546 (March 2000) DOI: 10.1067/mai.2000.104780 Copyright © 2000 Mosby, Inc. Terms and Conditions

Fig. 1 SSCP gel of exon 4 showing a polymorphism in a subject with HAE. Lanes 1-4, Normal control subjects; lane 5, kindred 9. Polymorphism in lane 5 is indicated by an arrow. Journal of Allergy and Clinical Immunology 2000 105, 541-546DOI: (10.1067/mai.2000.104780) Copyright © 2000 Mosby, Inc. Terms and Conditions

Fig. 2 Cycle sequencing of PCR-amplified exon 4 by using labeled sense primer showing heterozygous T to A mutation at nucleotide 4,453 in kindred 9 (sample 2). Lanes 1-4 show a sequence ladder from a normal subject, with the corresponding nucleotides (nt.) and amino acids (AA) indicated on the left. Lanes 5-16 show the sequencing pattern for 2 normal subjects and the affected individual from kindred 9. The arrow on the right indicates the position where the affected subject from kindred 9 is heterozygous for an A (lane 9), as well as the normal T (lane 12) . The T to A substitution converts codon 196 from GTC (Val) to GAC (Asp). Journal of Allergy and Clinical Immunology 2000 105, 541-546DOI: (10.1067/mai.2000.104780) Copyright © 2000 Mosby, Inc. Terms and Conditions

Fig. 3 C1 inhibitor mutations shown in the context of gene and protein structure. A, The intron-exon structure of C1 inhibitor showing the location of identified mutations. The introns are salmon colored, and the exons are blue colored. Within the exons, the location of the strands of the β-sheet A are shown in red. The reactive loop in exon 8 is indicated in purple. Straight arrows indicate base changes, arrows with small rectangles at the outside end indicate small deletions, and feathered arrows indicate small insertions. The mutations identified in this report are indicated by larger yellow arrows. The mutations that are shown in panel B are marked with a colored ball. B, The three-dimensional serpin protein structure shown head on (left) and rotated 90° on the y-axis (right) produced by using the programs MolView 1.5.0 and MolView Lite 2.030 based on the 2.0 angstrom resolution atomic coordinates of α1-antitrypsin (protein data bank file 1QLP, deposited by P. R. Elliott, et al). The β-sheet strands are represented by ribbons , and α-helices are represented by cylinders . The 5 strands of the β-sheet A are indicated in red, and the reactive loop strand is shown in purple. The identified mutations are indicated by colored balls corresponding to the side chains of the wild-type amino acids as follows: green indicates Gly 162, cyan indicates Cys 183, orange indicates Val 196, blue indicates Lys 251, purple indicates Ile 252, yellow indicates His 421, and red indicates Arg 444. Journal of Allergy and Clinical Immunology 2000 105, 541-546DOI: (10.1067/mai.2000.104780) Copyright © 2000 Mosby, Inc. Terms and Conditions