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The majority of COL5A1 mutations introduce a premature stopcodon, resulting in nonsense-mediated mRNA decay and decreased type V (pro collagen production [5], [6].
These mutations introduce a premature stop codon that truncates the cytoplasmic tail of the G-CSFR resulting in hypersensitivity to G-CSF, resistance to apoptosis, and enhanced cell proliferation.
Half of patient ZIC3 mutations introduce a premature termination codon (PTC).
Some mutations introduce a premature termination codon in the S gene resulting in truncated envelope proteins.
Significantly, these mutations introduce a positively charged amino acid (arginine or lysine) enhancing the positive electrostatic potential of the HF surface.
Nonsense mutations introduce a stop codon 'upstream' of the correct signal so that translation is stopped early and a truncated protein is made.
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None of the mutations introduced a major structural change upon energy minimization.
Nonsense mutations introducing a premature termination codon (PTC) often result in the activation of cellular quality control systems that reduce mRNA levels or alter the mRNA splicing pattern.
Furthermore, mutations introducing a premature stop codon may skew the lamin A to lamin C ratio, thus contributing to disease (Al-Saaidi et al., 2013).
Two distinct frameshift mutations introducing a stop codon were detected in the gene cya1, the major class III adenylate cyclase in Synechocystis: An insertion in the the strain A1, and a deletion in 41.3% of mutIV-mix-2 reads.
These are chiefly missense mutations, introducing an amino acid change in the context of an expressed protein.
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