Functional and structural impact of novel SERPINA1 variants on Alpha-1 Antitrypsin Deficiency

Abstract excerpt

<title>Abstract</title> <p>Background. Mutations in the SERPINA1 gene can result in alpha-1 antitrypsin deficiency (AATD), which may be associated with lung or liver injury. Although the S and Z alleles account for over 95% of cases of AATD, a wide variety of rare variants have been linked to deficiency and dysfunction, while other variants are associated with normal alpha-1 antitrypsin (AAT) levels and activity....

Topics

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• alpha 1-Antitrypsin
• alpha 1-Antitrypsin Deficiency
• Genetic Variation
• Genotype
• Mutation
• Mutation, Missense
• Protease and Inhibitor Mechanisms
• Pulmonary Emphysema

Identifiers and source

Literature Corpus work

ea842cb9-bb44-5256-97ef-3368014463f1

DOI

10.21203/rs.3.rs-6654733/v1