EC Number   |
Protein Variants |
Reference |
|---|
    1.14.14.24 | A241G/L243V/F244L/P245R/R246F |
mutation in substrate recognition site 3, to the equivalent residues in CYP2D6, an enzyme not active in 25-hydroxylation. The 25-hydroxylase activity of the mutant is completely lost whereas the activity toward tolterodine remains virtually unaffected |
717177 |
| 1.14.14.24 | A326G |
about 90% loss of activity with all substrates tested |
717838 |
| 1.14.14.24 | E216A |
2- to 3fold increase in hydroxylase activity |
-, 717180 |
| 1.14.14.24 | E384R |
2- to 3fold increase in hydroxylase activity |
-, 717180 |
| 1.14.14.24 | L99P |
mutation identified in a patient with low circulating levels of 25-hydroxyvitamin D and classic symptoms of vitamin D deficiency. This individual is homozygous for a transition mutation in exon 2 of the CYP2R1 gene on chromosome 11p15.2, leading to the substitution of a proline for an evolutionarily conserved leucine and eliminating vitamin D 25-hydroxylase enzyme activity |
718313 |
| 1.14.14.24 | more |
construction of null mutant enzyme-deficient Cyp2r1-/- mice, that show greater than 50% reduction in serum 25-hydroxyvitamin D3 level, while the 1alpha,25-dihydroxyvitamin D3 level in the serum remains unchanged. A double knockout of Cyp2r1 and Cyp27a1, the enzyme responsible for the 1alpha-hydroxylation step, maintain a similar circulating level of 25-hydroxyvitamin D3 and 1alpha,25-dihydroxyvitamin D3 |
-, 737160 |
| 1.14.14.24 | T70R |
2- to 3fold increase in hydroxylase activity |
-, 717180 |
| 1.14.14.24 | T70R/V156L/E216M/E384R |
21fold increase in hydroxylase activity |
-, 717180 |
| 1.14.14.24 | T70R/V156S/E216A/E384R |
7.9fold increase in hydroxylase activity |
717180 |
| 1.14.14.24 | V156S |
2- to 3fold increase in hydroxylase activity |
-, 717180 |
