EC Number   |
Protein Variants |
Reference  |
|---|
    5.1.3.14 | G89R |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | H132Q |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | I200F |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | I241S |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | L379H |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | M171V |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | M29T |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | M712T |
the Persian-Jewish HIBM founder mutation is located at the interface alpha4alpha10 of GNE and likely affects GlcNAc, Mg2+, and ATP binding |
703912 |
| 5.1.3.14 | more |
mutant genotyping, overview. Modeling of effects of GNE/MNK missense mutations associated with HIBM or sialuria on helix arrangement, substrate binding, and enzyme action, overview. All reported mutations are associated with the active sites or secondary structure interfaces of GNE/MNK |
703912 |
| 5.1.3.14 | P27S |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
