Two antithrombin mutations in a compound heterozygote: Met20Thr and Tyr166Cys.
The molecular basis for a family with Type I antithrombin deficiency has been established. Amplification and sequencing of the antithrombin gene identified two mutations: Met20Thr (2523T-->C) within exon 2 and Tyr166Cys (5493A-->G) within exon 3a. Further analysis indicated that the propositus was a compound heterozygote but in addition provided evidence for phase disruption during the amplification and/or cloning procedure. The Met20Thr mutation appears to be a neutral mutation with no functional consequences. In contrast, the Tyr166Cys mutation is associated with a Type I phenotype.
D000990:Antithrombin III / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D017354:Point Mutation
D000990:Antithrombin III