EC Number |
Protein Variants |
Reference |
---|
2.4.1.186 | D159N |
exists as both tetrameric and dimeric species, compared to wild-type enzyme which exists to more than 95% as dimer, self-glucosylation activities below the limit of detection of the assay. Ability to catalyze the transglucosylation of maltose is reduced by 260fold, hydrolysis of UDP-glucose is reduced 12fold |
659478 |
2.4.1.186 | D159S |
stable enzyme, self-glucosylation activities below the limit of detection of the assay. Transglucosylation activity of the mutant enzyme is reduced to undetectable levels, activity for the hydrolysis of UDP-glucose is reduced 14fold |
659478 |
2.4.1.186 | D162N |
exists as both tetrameric and dimeric species, compared to wild-type enzyme which exists to more than 95% as dimer, self-glucosylation activities below the limit of detection of the assay, undetectable activity for the transglucosylation of maltose and the hydrolysis of UDP-glucose to free glucose |
659478 |
2.4.1.186 | D162S |
stable enzyme, self-glucosylation activities below the limit of detection of the assay. 30fold less active for the trans-glucosylation of maltose and 340fold less active for the hydrolysis of UDP-glucose |
659478 |
2.4.1.186 | D163T |
a naturall yoccuring truncating 1-base deletion (c.484delG; p.Asp163Thrfs*5) causes reduced expression of glycogenin-1 protein, the phenotype includes altered morphology, muscle weakness and wasting, overview |
758611 |
2.4.1.186 | D163T |
naturally occuring mutation c.487del (p.Asp163Thrfs*5) in GYG1 causing glycogen storage disease (GSD) type XV, phenotype, overview |
759550 |
2.4.1.186 | D56H/D160T |
naturally occuring mutations c.166G.C (p.Asp56His)/c.472Del (p.Asp160Thr fs*5) in GYG1 causing glycogen storage disease (GSD) type XV, phenotype, overview |
759550 |
2.4.1.186 | DELTA270-332 |
mutant enzyme is fully active, specific activity for self- or transglucosylation is indistinguishable from the full-length enzyme |
659478 |
2.4.1.186 | DELTA270-332/D159S |
inactive mutant enzyme |
659478 |
2.4.1.186 | DELTA270-332/D162N |
exists as both tetrameric and dimeric species, compared to wild-type enzyme which exists to more than 95% as dimer |
659478 |