Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches.

ABSTRACT: Synonymous variations, which are defined as codon substitutions that do not change the encoded amino acid, were previously thought to have no effect on the properties of the synthesized protein(s). However, mounting evidence shows that these "silent" variations can have a significant impact on protein expression and function and should no longer be considered "silent". Here, the effects of six synonymous and six non-synonymous variations, previously found in the gene of ADAMTS13, the von Willebrand Factor (VWF) cleaving hemostatic protease, have been investigated using a variety of approaches. The ADAMTS13 mRNA and protein expression levels, as well as the conformation and activity of the variants have been compared to that of wild-type ADAMTS13. Interestingly, not only the non-synonymous

SUBMITTER: Edwards NC 

PROVIDER: S-EPMC3387200 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature