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SNPs reaching genome-wide significance are shown in greenThey all belong to the SERPINA gene cluster.
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The top 100 ranking SNPs associated with AAT serum levelconditional on PI S and Z alleles in SAPALDIAN1392
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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