EC Number   |
Protein Variants |
Reference |
|---|
   3.4.24.84 | H297A |
ability to complement the mating-defective phenotype of ste24-1 is lost |
638973 |
| 3.4.24.84 | more |
identification of compound heterozygous frameshifting mutations in exon 1, c.50delA, and exon 5, c.584_585delAT of the ZMPSTE24 gene in two brothers affected with restrictive dermopathy, who died in the neonatal period. Both deletions are frameshifting and are predicted to cause the appearance of premature termination codons |
710803 |
| 3.4.24.84 | more |
neonates with restrictive dermopathy have homozygous or compound heterozygous null mutations in the ZMPSTE24 gene |
719313 |
| 3.4.24.84 | T159/L209del |
no residual activity |
735044 |
| 3.4.24.84 | L647R |
prelaminaAct mutant, cannot be cleaved by Zmpste24 |
667497 |
| 3.4.24.84 | H335A |
the mutant shows 1.5% of wild type activity |
753395 |
| 3.4.24.84 | H339A |
the mutant shows 1.9% of wild type activity |
753395 |
| 3.4.24.84 | P248L |
the mutant shows 20.5% of wild type activity |
753395 |
| 3.4.24.84 | N265S |
the mutant shows 26.2% of wild type activity |
753395 |
| 3.4.24.84 | W340R |
the mutant shows 41.7% of wild type activity |
753395 |
