EC Number   |
Protein Variants |
Reference |
|---|
   3.4.21.61 | A433T |
is associated with a plasma PCSK9 concentration of 222 ng/ml |
710641 |
| 3.4.21.61 | A443T |
is expressed, processed, and secreted normally, and reduces cellular LDL uptake in a concentration-dependent like the wild-type |
686335 |
| 3.4.21.61 | C678X |
a loss-of-function mutation that abolishes the release of the enzyme from the endoplasmic reticulum |
731241 |
| 3.4.21.61 | D176G/D210A/D211S |
no preference for positively charged residues at P2 position, and S2 pocket is more solvent accessible, leading to preference for MR- over LR- or FR-containing substrates |
667421 |
| 3.4.21.61 | D374Y |
a naturally occurring gain-of-function mutation causing severe hypercholesterolaemia in humans due to a significantly decreased dissociation rate constant, whereas the mutation does not affect the association rate constant |
732857 |
| 3.4.21.61 | D374Y |
gain-of-function mutant, human monoclonal antibody mAb1 also blocks binding of PCSK9 to low density lipoprotein receptor in the mutant |
710427 |
| 3.4.21.61 | D374Y |
gain-of-function PCSK9, has a greater activity reducing low density lipoprotein receptor in Hep-G2 cells |
709243 |
| 3.4.21.61 | D374Y |
mutant kinetic data show a slower k-off for substrate domain EGF-A and full-length low density lipoprotein receptor unbinding which stems from the destabilizing effects of this mutation on PCSK9 hydration sites, with a concomitant increase in the persistence of the bound complex |
718375 |
| 3.4.21.61 | D374Y |
naturally occurring gain-of-function mutant causes severe hypercholesterolemia |
717594 |
| 3.4.21.61 | D374Y |
naturally occurring gain-of-function mutation, associated to hypercholesterolemia and premature atherosclerosisias. Has less effect on processing (49% maturation) |
707332 |
