EC Number   |
Protein Variants |
Reference |
|---|
   2.4.1.50 | A187D/A189D |
30 kDa His-tagged amino-terminal fragment with mutations shows 2% glycosyltransferase activity of wild type fragment |
699120 |
| 2.4.1.50 | D166A/D168A |
inactive protein |
720848 |
| 2.4.1.50 | D207H |
the mutation is associated with skin fragility, delayed wound healing, joint hyperlaxity and contractures, muscle hypotonia, intellectual disability, and a spondyloepimetaphyseal dysplasia with bone fragility and severe kyphoscoliosis |
735420 |
| 2.4.1.50 | D336S |
lightly decreased activity |
720848 |
| 2.4.1.50 | D461A/D463A |
inactive protein |
720848 |
| 2.4.1.50 | D585A/D587A |
wild type activity |
720848 |
| 2.4.1.50 | G217S |
the mutation is associated with skin fragility, delayed wound healing, joint hyperlaxity and contractures, muscle hypotonia, intellectual disability, and a spondyloepimetaphyseal dysplasia with bone fragility and severe kyphoscoliosis |
735420 |
| 2.4.1.50 | more |
A668G, higher apparent molecular mass, about 90% reduced collagen galctosyltransferase activity and reduced glucosyltransferase activity, EC 2.4.1.66, about 50% decreased lysyl hydroxylase activity, EC 1.14.11.4 |
695440 |
| 2.4.1.50 | more |
delT2071, lower apparent molecular mass, about 60% reduced collagen galctosyltransferase activity and reduced glucosyltransferase activity, EC 2.4.1.66, complete loss of lysyl hydroxylase activity, EC 1.14.11.4 |
695440 |
| 2.4.1.50 | more |
LH-deficient mutant, deficiency of LH3 glycosyltransferase activity decreases cell growth and increases lethality |
699120 |
