EC Number |
Protein Variants |
Reference |
---|
5.1.3.19 | H205A |
site-directed mutagenesis of the catalytic site residue, the mutant shows complete loss of epimerase activity |
704498 |
5.1.3.19 | H450A |
site-directed mutagenesis of the catalytic site residue, the mutant shows complete loss of epimerase activity |
704498 |
5.1.3.19 | more |
siRNA gene silencing of DS-epi2 and DS-epi1 in lung HFL-1 fibroblasts |
704644 |
5.1.3.19 | N183S |
site-directed mutagenesis of an N-glycosylation site in DS-epi1 altering reaction kinetics |
704498 |
5.1.3.19 | N336S |
site-directed mutagenesis of an N-glycosylation site in DS-epi1 altering reaction kinetics and reducing the activity 13fold |
704498 |
5.1.3.19 | N642S |
site-directed mutagenesis of an N-glycosylation site in DS-epi1 altering reaction kinetics |
704498 |
5.1.3.19 | N648S |
site-directed mutagenesis of an N-glycosylation site in DS-epi1 altering reaction kinetics and reducing the activity 43fold |
704498 |
5.1.3.19 | S268L |
a naturally occuring homozygous DSE mutation c.803C>T in a patient with musculocontractural type of Ehlers-Danlos syndrome, MCEDS. The mutant enzymes shows a loss of activity towards partially desulfated dermatan sulfate, patient-derived fibroblasts also show a significant reduction in epimerase activity |
727608 |
5.1.3.19 | Y261A |
site-directed mutagenesis of the catalytic site residue, the mutant shows complete loss of epimerase activity |
704498 |