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Comment
. 2020 Apr 3:11:304.
doi: 10.3389/fgene.2020.00304. eCollection 2020.

Commentary: Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics

Roger Colobran  1   2   3
Affiliations
Comment

Commentary: Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics

Roger Colobran. Front Genet. .
No abstract available

Keywords: HGVS nomenclature; genetic variant; hereditary angioedema; mutation; plasminogen.

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Figures

Figure 1
Figure 1
Plasminogen gene structure and location of the c.988A>G/p.Lys330Glu mutation at the DNA and protein level. The plasminogen gene (PLG) has 19 exons and is located on the long arm of chromosome 6 (6q26). The HAE-associated c.988A>G/p.Lys330Glu mutation is located in exon 9 and is included in the dbSNP database (ID rs889957249). The diagram of the plasminogen protein shows its different domains and numbering of the amino acids (based on UniProtKB: P00747). The p.Lys330Glu mutation is located in the kringle 3 domain. The alternative nomenclature, p.Lys311Glu, is based on the mature protein, and it excludes the first 19 amino acids of the signal peptide (SP). The chromosome 6 image was obtained from the Human Genome Project Archive.
See this image and copyright information in PMC

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