A serine-to-alanine mutation at this site was found to attenuate Aurora-A-mediated phosphorylation in vitro.
We clearly showed that p62 is required to be ubiquitinated by wild-type parkin at the K13 residue and mutation at this site blocked its degradation (Fig. 5).
Evaluation of a synonymous mutation at this slippage site confirmed that genomes that failed to make NS1' were packaged more efficiently than WT genomes supporting a role for NS1/NS1' in orchestrating virion assembly.
An IGF-1R construct with a point mutation at this site (Y1136F) exhibits a decreased kinase activity [26].
The mutation at this residue presumably affects the putative peptidase activity of the N-terminal domain directly.
It has been shown that mutation at this particular site will reduce binding affinity by almost 4-fold [11].
Residue 457 is important for the function of SGLT1 and mutation at this position in hSGLT1 causes glucose-galactose malabsorption.
The lysine K1003 serves as ATP-binding site and an IGF-1R construct with a point mutation at this site (K1003R) cannot be autophosphorylated [25].
Although we cannot provide functional proof of the causality of the mutation at this time, the wealth of functional data, which are available for the PITX3 gene, strongly supports the hypothesis that p.R113P is indeed the causative mutation.
The residue G194 is located in the inner face of the active site, and thus, a mutation at this position is predicted to affect the function of the protein (Figure 2C-E, amino acid indicated in red; [60]).
The importance of this residue was initially revealed by the finding that a patient with glucose-galactose malabsorption, a disease characterized by inability to absorb intestinal glucose, had a mutation at this site (Q457R) [7], [7].
