EC Number   |
Protein Variants |
Reference |
|---|
    5.4.2.2 | A139T |
disease-associated missense variant |
749110 |
| 5.4.2.2 | D263G |
disease-associated missense variant |
749110 |
| 5.4.2.2 | D263G |
the mutation is associated with phosphoglucomutase 1 deficiency |
747748 |
| 5.4.2.2 | D263Y |
disease-associated missense variant |
749110 |
| 5.4.2.2 | D263Y |
the mutation is associated with phosphoglucomutase 1 deficiency |
747748 |
| 5.4.2.2 | D288G |
disease-associated missense variant |
749110 |
| 5.4.2.2 | D62H |
disease-associated missense variant |
749110 |
| 5.4.2.2 | E377K |
disease-associated missense variant |
749110 |
| 5.4.2.2 | E388K |
disease-associated missense variant |
749110 |
| 5.4.2.2 | G121R |
disease-associated missense variant |
749110 |
