The mutations observed (Figure 5) were insertions and deletions leading to frame shifts and point mutations (both transitions and transversions) resulting in either stop codons or substitutions in conserved, semi-conserved, or non-conserved amino acids [38].
We have verified similar changes leading to frame shifting and amino acid substitutions in the ND7 mRNAs in bloodstream T. brucei.
Clones 521, 218, 492 and 363 have several deletions in the ORF leading to frame shift and premature truncation.
Other complications were represented by bone sequestration due to an avascular area of bone, bone lysis along wire and pin tracts, leading to frame instability, or nonunions.
We targeted the 5′ region of the coding sequence and found a high incidence of small deletions leading to frame shift mutations.
Because SNPs were only 1.8 times more located in intergenic regions and introns compared with coding regions, we conclude that point mutations are more frequent in coding DNA than indels leading to frame shifts immediately.
5 6 PAX3 mutations associated with WS1 include substitutions of conserved amino acids in the paired domain or the homeodomain of the protein, splice site mutations, non-sense mutations and insertions or deletions leading to frame shifts.
Clone 636 encodes for the full length protein sequence, whereas clone 518 encodes for a truncated product due to a single nucleotide (A) addition at position 247 (Additional file 2) (from ATG) leading to frame shift and premature truncation.
Another result obtained from both the RACE-PCR screen and the manual inspection was that two predicted full-length photoprotein genes (MleiPP8 and MleiPP10), which had single nucleotide deletions leading to frame shifts in the draft assembly, have been correctly annotated, confirming that they are full-length photoprotein genes rather than pseudogenes.
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