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Many SERPINA1 gene mutations change single protein building blocksamino acidsin alpha-1 antitrypsinwhich alters the protein’s structureThe most common mutation that causes alpha-1 antitrypsin deficiency replaces the amino acid glutamic acid with the amino acid lysine at protein position 342written as Glu342Lys or E342KThis mutation results in a version of the SERPINA1 gene called the Z allele that produces very little alpha-1 antitrypsin.
AffiliationDivision of Therapeutics and Molecular MedicineQueen’s Medical CentreNottinghamUnited Kingdom.
AffiliationDepartment of Internal Medicine BUniversity Medicine GreifswaldGreifswaldGermany.
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hi some embodiments, the serpina-1 polypeptide comprises the amino acid sequence set forth as m 0x ieqntksplfmgkwnptqk seq id no 2 .