Table 1.
Mutations in the CPO Gene in British Patients with HCP
| Exon and Mutation | Sequence Modification | Reference |
| 1: | ||
| 485A→C | Q162P | Present study |
| 511G→A | D171N | Present study |
| 2: | ||
| 601G→A | E201K | Schreiber et al. 1997 |
| 607G→A | A203T | Present study |
| 4: | ||
| 877G→A | A293T | Present study |
| 916C→T | Q306X | Rosipal et al. 1999 |
| 923G→T | G308V | Present study |
| 5: | ||
| 991C→T | R331W | Martasek et al. 1994b |
| 1133delC | Frameshift (stop codon +42) | Present study |
| 1171C→T | R391W | Present study |
| 6: | ||
| 1201C→T | R401W | Present study |
| 1276C→T | R426X | Present study |
| 1277G→A | Exon 6 skipping | Delfau-Larue et al. 1994 |
| 7: | ||
| 1339C→T | R447C | Present study |