EC Number   |
Protein Variants |
Reference |
|---|
   3.1.26.4 | A115E |
mutation causes partially enhanced nuclease activity for the RNA-DNA duplex substrate, increase in its kcat of about 140% |
744264 |
| 3.1.26.4 | A115E |
partially enhanced nuclease activity for the RNA-DNA duplex substrate |
707438 |
| 3.1.26.4 | A12S |
random mutagenesis, roughly cumulative effect on enzyme activity, increased kcat/Km value compared to the wild-type enzyme |
-, 654569 |
| 3.1.26.4 | A12S/K75M/A77P |
site-directed mutagenesis, 40fold increased kcat/Km value compared to the wild-type enzyme, thermal stability similar to the wild-type enzyme |
654569 |
| 3.1.26.4 | A177T |
mutation in subunit H2B associated with Aicardi-Goutieres' syndrome, near-normal activity |
710142 |
| 3.1.26.4 | A177T |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
715581 |
| 3.1.26.4 | A177T |
naturally occuring mutation in subunit RNASEH2B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS. The mutation disrupts the interface between a RNASEH2B alpha-helix and the RNASEH2C kinked helix |
715580 |
| 3.1.26.4 | A185V |
naturally occuring mutation of RNase H1, that is involved in adult-onset mitochondrial encephalomyopathy. Both RNase H1:V142I and RNase H1:A185V, alone or in combination, display impaired R-loop processing activity compared to wild-type RNase H1. As a consequence, the mutant RNase H1 proteins cannot support origin-specific initiation of DNA replication in vitro |
751911 |
| 3.1.26.4 | A185V |
site-directed mutagenesis, reconstruction of a disease causing mutation in RNaseH1 that impairs primer processing. Ala185 is adjacent to the catalytically essential Glu186, which coordinates a catalytic Mg2+ ion and forms part of a hydrophobic pocket that mediates the stabilising interactions in the active site region. The A185V mutation causes a steric clash in this pocket |
751754 |
| 3.1.26.4 | A77P |
random mutagenesis, roughly cumulative effect on enzyme activity, increased kcat/Km value compared to the wild-type enzyme |
-, 654569 |
