Moreover, approximately 90 % of HER2 mutations are represented by in-frame non-frameshift insertions in exon 20 of the tyrosine kinase domain (ex20ins), and the predominant variant is a recurrent 12 base-pair insertion that leads to the A775_G776insYVMA mutation (YVMAins), followed by G...
The frequency of the wild-type allele and of the most abundant mutations and their predicted consequence (frameshift / in-frame deletion) are shown. These frequencies indicate that 75% of the cells are predicted to carry at least one deleterious mutant allele. c, Islets (≈1700) were purified...
Notably, both patients had TP53 alterations, and one patient had an additional frameshift mutation in the EGFR gene [49]. This finding is quite intriguing, knowing that inactivating TP53 mutations often confer intrinsic resistance towards CDK4/6i monotherapy in HNSCC and may also partially explain ...
Premature stop codons introduced by nonsense or frameshift mutations can be removed by back mutation. Thus, knockout clusters due to premature stops were called using the Fitch parsimony algorithm, which allows for back mutation65,72. Samples were considered as part of the same knockout cluster ...
frameshift, stop gained, initiator codon, inframe insertion or deletion, splice and missense with deleterious (SIFT) or damaging (Polyphen) prediction; synonymous, intronic, 5′- and 3′- UTR and missense variants with tolerated (SIFT) and benign (Polyphen) prediction were filtered out, unless ...
There are broadly used tools such as SIFT [21] and PolyPhen-2 [24] that provide an interpretation of mutation impacts. Many of these tools focus on the individual variants. In the variant-focused studies, it has been noted that variants tend to arise more frequently in long genes (e.g....
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. Hum Mutat. 2005 May;25(5):503. Article PubMed Google Scholar Tlili A, Rebeh IB, Aifa-Hmani M, Dhouib H, Moalla J, Tlili-Chou...
As the candidate gene mutations responsible for strain-specific phenotypes, we detected 24 deleterious mutations specific to a single SAMP strain, including the Il4ra p.S540fs frameshift mutation in SAMP6/TaSlc, which is used as a model for osteoporosis, and the Aifm3 p.K582N mutation in ...
The mutation densities of SCN1A missense, nonsense, and frameshift mutations within the 26 coding regions are shown in Table 3. To adjust for the different sizes of SCN1A exons, the mutation densities were calculated as the number of mutations per 100 base pairs. The average mutation densities...
We identified two novel HLA-A0201-restricted cytotoxic T cell epitopes derived from a (-1) frameshift mutation of a coding A(8) tract within the MSH3 gene. These were386-FLLALWECSL (FSP18) and387-LLALWECSL (FSP19) as well as403-IVSRTLLLV (FSP23) and402-LIVSRTLLLV (FSP31), ...