EC Number |
Protein Variants |
Reference |
---|
5.4.2.8 | C241S |
the mutant shows 60% residual activity the mutation is associated with phosphomannomutase 2 deficiency |
715810 |
5.4.2.8 | D188G | |
mutant of isoform PMM2, 2% of wild-type activiy, involved in congential disorder of glycosylation type 1a |
680647 |
5.4.2.8 | D209G |
inactive, the mutation is associated with phosphomannomutase 2 deficiency |
715810 |
5.4.2.8 | D65Y |
mutant of isoform PMM2, involved in congential disorder of glycosylation type 1a |
680647 |
5.4.2.8 | D65Y |
the mutant shows 20% residual activity the mutation is associated with phosphomannomutase 2 deficiency |
715810 |
5.4.2.8 | DELTAmanAB |
phosphomannose isomerase, phosphomannosemutase double mutant |
693999 |
5.4.2.8 | E197A |
the mutant has wild type activity |
715810 |
5.4.2.8 | E325A |
mutant shows 0.08% of wild type activity |
690999 |
5.4.2.8 | F119L |
monomeric mutant |
748183 |
5.4.2.8 | F119L |
mutant of isoform PMM2, involved in congential disorder of glycosylation type 1a |
680647 |