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Four of the mutations generated stop signals at codons 131, 321, 334, and 348; transcripts of all but the last, due to delta 1019-1020, were severely reduced.
All other mutations except two transposon insertions generated stop codons, were deletions, an inversion, or frameshift generated nonsense codons, even those which exhibited only one or two of the three dumpy mutant phenotypes.
All four de novo ASXL3 mutations generated stop codons, and were predicted, in silico, to generate a truncated ASXL3.
In nearly all of our assemblies, it was the latter: mis-assembly of the putative protein which generated stop codons.
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However, during the flNcd sliding experiments we observed that non-aligned microtubules moved at velocities, and generated stopping forces, significantly higher than aligned microtubules.
Among the nonsynonymous differences are included four rare deletions (1 5 bp in length), one insertion (1-bp), and six nonsense variants (SNPs generating stop codon) (Figure 1B and Table S1).
Of the 52 missense point mutations in the 15 FA genes, 4 generate stop codons.
It is therefore advisable to identify the region with most potential for generating stop codons and significant amino acid changes.
In spite of that, partial coding regions available for these genes have no mutations truncating the open reading frames or generating stop codons, suggesting that both are functional copies.
Especially, non-synonymous SNPs (nsSNPs), including missense SNPs that provoke amino acid mutation and stop-gain SNPs that terminate the peptide synthesis by generating stop codon, are thought to play key roles in causing diseases by changing the protein structure and functions.
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