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Table 1 Characteristics of mutations

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

Mutationa

Outcome

Corresponding residue in E. colib

CRIMc

Mutant mRNA as a ratio of wild type mRNAd

Exon 3 76C→T

R26C

R11

+

 

Exon 10 499C→T

R167W

R149

+

 

Exon 10 517C→T

R173W

R155

−/+

0.97

Exon 10 518G→A

R173Q

R155

+

0.66

Exon 12 673C→G

R225G

R211

0.82

Exon 12 673C→T

R225X

R211

0.22

Exon 15 1073delA

Frame shifte

 

0.72

  1. a(15)
  2. b(36)
  3. c CRIM, cross-reactive immunologic material(27)
  4. d(18)
  5. e Original termination codon abolished