Characterization of compound heterozygote (2603 T>C, ins13363A) in family II.

<p>A) Thrombin inhibitory activity of mutant AT compared with wild type AT. The results plotted are average of three independent experiments. B) SDS-PAGE followed by immunoblotting in healthy control. C) SDS-PAGE followed by immunoblotting in the proband, II(1)F. Pure AT at 2.0M NaCl concentration serves as an internal control as α and β isoforms of AT elutes at equimolar concentration. D) SDS-PAGE followed by immunoblotting in the mother of proband, I(2)F. E) Superimposition of 5 predicted models of N-terminal 30 residue stretch resultant of frame shift mutation F) Tertiary structure of mutated AT with 13363 insA. Hot pink represents 1E05:1 (wild type), red indicates model 3 and teal represents model 4. Blue denotes common among these structures. G) WebLogo of 27 inhibitory serpins including mutant exon 6. Molecular graphic images were prepared in Chimera.