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Results 1 - 10 of 188 > >>
EC Number Protein Variants Commentary Reference
Show all pathways known for 2.7.7.23Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.23A229T naturally occuring enzyme AGX1 mutation, and site-directed mutagenesis, the A229T mutation causes a reduction of protein thermal stability compared to wild-type AGX1, and AGX1A229T has lower activity in producing UDP-GlcNA. In diploid organisms, haploinsufficiency is a phenomenon in which a single copy of a functional gene is not sufficient to produce the normal/wild-type phenotype. The patient is only heterozygous for the UAP1 A229T missense mutation. The UAP1 gene is potentially haploinsufficient and LoF intolerant, and the heterozygous UAP1 A229T mutation is potentially pathogenic. The recombinant mutant enzyme shows a reduction of the melting temperature (Tm) by approximately 5.3°C compared to wild-type. The A229T mutation induces structural changes. The R228-E44 interaction is abolished in the AGX1A229T structure caused by the position shift of R228. The pushing effect is likely due to the bulkier side chain of threonine compared to that of alanine. Along with the conformational change of the N-terminal domain in the AGX1A229T structure, is M218 shifted by 0.8 A away from R169, weakening the Q112-R169-M218 interaction 761091
Show all pathways known for 2.7.7.23Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.23C307S site-directed mutagenesis -, 735569
Show all pathways known for 2.7.7.23Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.23D105A site-directed mutagenesis, the mutant shows 50% reduced activity compared to the wild-type enzyme 740262
Show all pathways known for 2.7.7.23Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.23D208A enhanced UDP-N-acetylglucosamine diphosphorylase activity under optimal conditions 725308
Show all pathways known for 2.7.7.23Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.23D208A exhibits slightly weaker UDP-N-acetylglucosamine diphosphorylase activity than wild-type enzyme 725308
Show all pathways known for 2.7.7.23Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.23D208A GlcNAc-1-P UTase activity is 10% of the activity of wild-type ST0452 protein 748123
Show all pathways known for 2.7.7.23Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.23D99A no GlcNAc-1-P UTase activity -, 748123
Show all pathways known for 2.7.7.23Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.23DELTA1-130 deletion of N-terminus, very low activity -, 288688
Show all pathways known for 2.7.7.23Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.23DELTA1-182 deletion of N-terminus, very low activity -, 288688
Show all pathways known for 2.7.7.23Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.23DELTA1-227 deletion of N-terminus, very low activity -, 288688
Results 1 - 10 of 188 > >>