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Table 3 PBGD activity assay after expression in COS-1 cells

From: Acute Intermittent Porphyria: Expression of Mutant and Wild-Type Porphobilinogen Deaminase in COS-1 Cells

Construct

Enzyme activity (±S.E.) nmol/mg prot/ha

Percentage of wild type activityb

SVpoly-PBGD

3173 (±507)

100%

SVpoly-PBGD-R26C

105 (±17)

0%

SVpoly-PBGD-R167W

273 (±66)

5%

SVpoly-PBGD-R173W

173 (±33)

1%

SVpoly-PBGD-R173Q

140 (±11)

0%

SVpoly-PBGD-R225G

626 (±78)

16%

SVpoly-PBGD-R225X

142 (±9)

0%

SVpoly-PBGD + 43 aa (1073delA)

1660 (±174)

50%

SVpoly

131 (±3)

0%

H2O

113 (±13)

0%

COS-1 cells, not transfected

127 (±7)

0%

  1. a Mean value of four independent transfections.
  2. b Corrected with the endogenous COS-1 PBGD activity