EC Number   |
Protein Variants |
Reference |
|---|
    5.1.3.14 | R266Q |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | R266Q |
GNE mutants are created by site-directed mutagenesis with the mutagenic oligonucleotides 5'-GGTTCGAGTGATGCAGAAGAAGGGCATTGAGCA-3' for the R266Q sialuria mutations (where the site of mutation is underlined) through PCR-like amplification with Pfu polymerase. |
674638 |
| 5.1.3.14 | R266W |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | R266W |
GNE mutants are created by site-directed mutagenesis with the mutagenic oligonucleotides 5'-GGTTCGAGTGATGTGGAAGAAGGGCATTGAGCA-3' for the R266W sialuria mutations (where the site of mutation is underlined) through PCR-like amplification with Pfu polymerase. |
674638 |
| 5.1.3.14 | R277C |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | R306Q |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | R335W |
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme |
703912 |
| 5.1.3.14 | R335W |
a naturally occuring missense mutation in exon 6 of the GNE gene of a patient with hereditary inclusion body myopathy |
703865 |
| 5.1.3.14 | R420M |
enzyme with mutation in the putative kinase active site shows drastic loss in their kinase activity but retains their epimerase activity |
641739 |
| 5.1.3.14 | R71W |
a naturally occuring missense mutation in exon 3 of the GNE gene of a patient with hereditary inclusion body myopathy |
703865 |
