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This subsection of the Family and Domains section describes the position and type of a domainwhich is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.

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AffiliationsDepartment of Epidemiology and BiostatisticsImperial College LondonLondonUnited KingdomInstitute of Health SciencesUniversity of OuluOuluFinlandBiocenter OuluUniversity of OuluOuluFinlandUnit of Primary CareOulu University HospitalOuluFinlandDepartment of Children and Young People and FamiliesNational Institute for Health and WelfareOuluFinland.

AffiliationDepartment of Pathology and Medical BiologyUniversity Medical Center GroningenGRIAC Research InstituteUniversity of GroningenGroningenThe Netherlands.

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.

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