105 Since then, several missense mutations, as well as splice-site and small deletions and insertions were identified.
Moessner et al also investigated SHANK3 variation in ASD and identified several point mutations, as well as CNVs, concluding that one was likely of significance (Moessner et al, 2007).
The coverage threshold was applied because random verification of several putative mutations as well as coverage and variant frequency analysis indicated that regions with low sequence coverage did not allow for reliable detection of variants; these regions are probably difficult to sequence, e.g. because of repetitive sequences, or the formation of secondary DNA structures.
We identified several novel missense mutations as well as cases in which both alleles of POLE might be affected by mutations.
Several mutations such as A421V, L392I and P495L in thumb I pocket of HCV NS5B polymerase have been proved to be resistant to BMS-791325 (Phase III clinical trial).
Previous studies showed that several mutations, such as P42S, D92E, and V149A, may increase the virulence of H5N1 viruses in pigs, mice and chickens, respectively [45], [46].
In addition, there were clones that acquired several mutations (such as clone E1) and manifested a lower fitness increase than clones that acquired a single mutation (clones in lineage D).
In contrast, human colon cancer cell lines that have been used in previous reports have several mutations such as K-ras, p53 and transforming growth factor (TGF -β TGF -βI receptype(Gayet et al., 2001; IIichi et al., 2001).
Although we identified several mutations in the intronic as well as untranslated regions, we reported only those mutations that were found in the protein coding sequences.
In fact, nucleotide mutations are induced by the experimental protocol but in addition, several other factors cause mutations as well, such as sequencing errors, contamination with external RNA, and single-nucleotide polymorphisms (SNPs).
