EC Number   |
Protein Variants |
Reference |
|---|
   2.3.1.255 | I72T |
a naturally occuring mutation NAA10 c.215T>C, the mutant phenotype shows a milder phenotypic spectrum in comparison to most of the previously described patients with NAA10 variants. The three boys have development delay, intellectual disability, and cardiac abnormalities as overlapping phenotypes. NAA10 Ile72Thr protein is destabilized, while binding to NAA15 most likely is intact. The NatA activity of NAA10 Ile72Thr appears normal while its monomeric activity is decreased. Genotype-phenotype correlations for NAA10 variants, overview |
756642 |
| 2.3.1.255 | K136R |
site-directed mutagenesis, that lacks autoacetylation, the mutant shows wild-type NAT activity |
757723 |
| 2.3.1.255 | K136R |
site-directed mutagenesis, the non-acetylated K136R mutant shows N-terminal acetyltransferase capacity as strongly as the hARD1/NAA10 wild-type, but fails to acetylate itself |
757723 |
| 2.3.1.255 | K29A |
mutation in NatA, increase in kcat, decrease in Km value |
736866 |
| 2.3.1.255 | K29A/Y33A |
mutation in NatA, decrease in kcat, Km value similar to wild-type |
736866 |
| 2.3.1.255 | K59A |
mutation in NatA, decrease in kcat, increase in Km value |
736866 |
| 2.3.1.255 | K59A/E61A |
mutation in NatA, decrease in kcat, increase in Km value |
736866 |
| 2.3.1.255 | K59A/E62A |
mutation in NatA, decrease in kcat, increase in Km value |
736866 |
| 2.3.1.255 | L22A |
mutation in NatA, decrease in kcat, increase in Km value |
736866 |
| 2.3.1.255 | L814P |
site-directed mutagenesis, the hNAA15 mutant is defective for HYPK inhibition and reduces hNatA thermostability, hNAA10 binding is not affected. The hNAA15-L814P-V5 hNatA complex shows an increased catalytic activity compared to wild-type hNatA |
757754 |
