PMM activities and PMM2 mutations in 11 unrelated French CDG Ia patients. Enzymatic activity is expressed in U/g protein. 1 U enzyme is the activity corresponding to the formation of 1 μmol NADPH/min under the assay conditions. Control activities were means (SD): leucocytes (le) 4.8 (1.5) U/g (n= 93), fibroblasts (f) 4.54 (0.94) U/g (n=14), and lymphoblasts (ly) 11 (3.9) U/g (n=4)
| Identification | PMM activity | Mutation 1 nucleotide |
Mutation 1 amino acid | Mutation 2 nucleotide |
Mutation 2 amino acid |
| PL | 0.9 (le), 2.3 (ly) | G26A (exon 1) | C9Y | G425A (exon 5) | R141H |
| Co A | 0.1 (f) | TA95GC (exon 2) | L32R | ? | ? |
| MT | <0.1 (f) | G385A (exon 5) | V129M | G425A (exon 5) | R141H |
| HA | <0.1 (f) | T395C (exon 5) | I132T | G368A (exon 5) | R123Q |
| DL | <0.1 (f), <0.1 (le) | T395C (exon 5) | I132T | G425A (exon 5) | R141H |
| PA | ND | T395C (exon 5) | I132T | G425A (exon 5) | R141H |
| SD | 0.5 (f), <0.1 (le) | C677G (exon 8) | T226S | G425A (exon 5) | R141H |
| GL | <0.1 (f) | G691A (exon 8) | V231M | G425A (exon 5) | R141H |
| PJ | <0.1 (f) | G691A (exon 8) | V231M | G425A (exon 5) | R141H |
| Ch A | 0.5 (f) | G691A (exon 8) | V231M | G425A (exon 5) | R141H |
| RN | <0.1 (le) | G722C (exon 8) | C241S | G425A (exon 5) | R141H |
ND = not determined.
? = no mutations found in cDNA and intron-exon junctions.