EC Number   |
Protein Variants |
Reference  |
|---|
   3.4.24.84 | L425P |
the mutation is associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability (41.9% of wild type activity) |
753395 |
| 3.4.24.84 | L438F |
the mutation is associated with metabolic syndrome and non-alcoholic fatty liver disease and reduced prelamin A cleavage ability (52.7% of wild type activity) |
753395 |
| 3.4.24.84 | L462R |
the mutation is associated with restrictive dermopathy and reduced prelamin A cleavage ability (6.5% of wild type activity) |
753395 |
| 3.4.24.84 | L94P |
the mutation with is associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability (11.3% of wild type activity) |
753395 |
| 3.4.24.84 | N265S |
the mutant shows 26.2% of wild type activity |
753395 |
| 3.4.24.84 | N265S/L362F |
the mutations are associated with Hutchinson-Gilford progeria syndrome and reduced prelamin A cleavage ability |
753395 |
| 3.4.24.84 | N265S/Y70S |
the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability |
753395 |
| 3.4.24.84 | P248L |
the mutant shows 20.5% of wild type activity |
753395 |
| 3.4.24.84 | P248L/Q41X |
the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability |
753395 |
| 3.4.24.84 | P248L/W450X |
the mutations are associated with mandibuloacral dysplasia type B and reduced prelamin A cleavage ability |
753395 |
