Mutations were focused on amino acid positions that were believed not to be critical for the protein's structure or function.
Most studies on TP53 mutations were focused on patients with CK, 17p abnormalities or older population.
Knockout mutations were focused on subunits of the Major Histocompatibility Complex (MHC) class I (β2m−/− or H2KbDb−/−), subunits of the CD3 complex (δ−/− or ϵ−/−ζ−/−), and Recombination Activating Gene 2 (RAG2−/−).
The most common ways of analyzing missense mutations are focused on two distinct but related goals.
In some genes (e.g., JAK2, KRAS, PDGFRA), mutations are focused mainly within a few key sequence regions; in others (e.g., APC, TP53, CDKN2A), infrequent mutations are spread across hundreds of positions within the gene.
This phenotype is very similar to Tex14 knockout mice phenotype and therefore the search for causal mutation was focused on Tex14 gene.
Previous in vitro studies were focused on mutations, including the Y1230 TKD phosphorylation site, upregulation of KRAS, and expression of a novel SND-1 BRAF fusion protein.
In the superimposed structure, the region flanking (10 bp) the unique mutation (E→G) was focused (Fig. 4) and the mutated amino acid side chain protruded out of the structure.
After identifying the chromosomes in which the mutations resided, mapping was focused on pe334, pe335, and pe336, which showed linkage to chromosome III.
To our knowledge, the only study in which a significant proportion of cases contained EGFR mutation (14%) was focused on a rare variant form, basaloid squamous cell carcinoma, suggesting that aberrations in EGFR may be involved in this particularly aggressive form of the disease [ 26].
Unfortunately, none of the mutations in the overlapping articles has been curated by both databases because COSMIC is focused on somatic mutations, whereas InSiGHT is focused on germline mutations in only four genes.
