Sentence examples for mutational hotspots of from inspiring English sources

The freshly frozen samples containing the E17K substitution in AKT1 were also analysed for PTEN mutations and for mutations in the mutational hotspots of exons 9 and 20 of PIK3CA (see Supplementary Table 1 for primer sequences of PIK3CA and PTEN).

As our NGS technique targeted the whole gene sequence, whereas Sequenom OncoCarta panels only target specific mutational hotspots of certain genes, the majority of NGS detected mutations were not included in the Sequenom analysis.

Furthermore, the E17K substitution in AKT1 was mutually exclusive with respect to mutations in PTEN and PIK3CA, as in the freshly frozen samples, mutational profiling of all nine PTEN exons and of the mutational hotspots of PIK3CA (exons 9 and 20) showed no mutations (Table 1b).

With the aim of detecting mutational hotspots of DIMs, we conducted a computational analysis of the local DNA sequence context of DIMs.

Glazko and coworkers show, using three statistical tests developed for the purpose, that the mutational hotspots of the TP53 gene evolve by positive selection.

The mutational profiling of the mutational hotspots of PIK3CA and PIK3R1 in a subset of 63 prostate cancer patients did not reveal any mutated sample, which is consistent with earlier findings (Ligresti et al, 2009).

Finally, our results suggest both the existence of previously unknown constitutively activating mutations in kinases as well as the presence of mutational hotspots on two specific positions leading to the inactivation of protein kinases, namely the Asp and Gly within the DFG motif at the beginning of the activation segment.

All samples showed wild-type sequence for exon 9 and exon 20, with two exceptions: In one single WBC of patient IB14, we detected a silent mutation (c.3159A > G) near the mutational hotspot of exon 20, and we found a single WBC of patient IB07 harboring a previously not described mutation at codon 1,015 resulting in the exchange of serin to tyrosine.

Only twenty instabilities were finally confirmed, most of them affecting the homopolymeric stretch located in the second hypervariable segment (HVS-II) around position 310, which is well known to constitute an extreme mutational hotspot of length polymorphism, as these mutations are frequently observed in the general human population.

The amino acid at position 672 (R672) is the most frequently mutated residue associated with Freeman Sheldon syndrome indicating a mutational hotspot of this residue [ 79].

A polynucleotide tract extending from 303 to 315 nucleotide positions (D310) within the non-coding region of mtDNA has been identified as a mutational hotspot of primary tumors.