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. 2018 Dec 10;129(1):388–405. doi: 10.1172/JCI98869

Figure 1. Characteristics of studied SERPING1 gene variants and plasma levels of C1INH in patients carrying the variants.

Figure 1

(A) The overall structure of active C1INH protein (Protein Data Bank entry 5DU3). The locations of the studied HAE-causing variants are marked as follows: p.Gly162Arg (red), p.Thr167Asn (cyan), p.Val451Met (magenta) and p.Pro454Leu (green). For p.Gly162_Pro206del and p.Ser258_Pro260del the areas deleted in C1INH are marked with dark blue and yellow, respectively. (B) Presentation of the 6 studied SERPING1 gene variants and key data related to each gene variation and to patients carrying the variants. See Supplemental Table 1 for additional information.