Rs121912713

rs121912713, better known as Met358Arg or Pi-Pittsburgh, represents a mutation in the SERPINA1 gene on chromosome 14. The rs121912713(G) allele represents a dominant mutation occurring at the active site of the alpha-1 antitrypsin (AAT) protein, in which AAT becomes a potent inhibitor of thrombin and factor XI (rather than of elastase), resulting in a bleeding disorder. For more details, see OMIM 107400.0026.