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EC Number Protein Variants Commentary Reference
Show all pathways known for 2.4.1.186Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.186D159N 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
Show all pathways known for 2.4.1.186Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.186D159S 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
Show all pathways known for 2.4.1.186Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.186D162N 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
Show all pathways known for 2.4.1.186Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.186D162S 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
Show all pathways known for 2.4.1.186Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.186D163T 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
Show all pathways known for 2.4.1.186Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.186D163T naturally occuring mutation c.487del (p.Asp163Thrfs*5) in GYG1 causing glycogen storage disease (GSD) type XV, phenotype, overview 759550
Show all pathways known for 2.4.1.186Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.186D56H/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
Show all pathways known for 2.4.1.186Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.186DELTA270-332 mutant enzyme is fully active, specific activity for self- or transglucosylation is indistinguishable from the full-length enzyme 659478
Show all pathways known for 2.4.1.186Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.186DELTA270-332/D159S inactive mutant enzyme 659478
Show all pathways known for 2.4.1.186Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.186DELTA270-332/D162N exists as both tetrameric and dimeric species, compared to wild-type enzyme which exists to more than 95% as dimer 659478
Results 1 - 10 of 42 > >>
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