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Exact(5)
Most importantly, we also found CHEK2 mutations generating a non-functional protein in our in vitro assays to be associated with drug resistance.
Deletions, insertions and missense mutations generating a STOP codon were scored as high-impact mutations (score 3).
Forty mutations are described in the γ-sarcoglycan gene (SGCG), 16 missense mutations generating a full protein with a single residue substitution (Fig. 5) and 24 that generate a truncated protein or no protein at all.
ChemChains can be used to conduct experiments consisting of thousands of simulations under various input conditions (including any number of mutations), generating a large amount of data ready for systems analysis.
Thus, the proposed S. pombe gene (and its equivalent in Schizosaccharomyces cryophilus) likely resulted from premature nonsense mutations, generating a fossil carboxyl-terminal sequence that in the remaining related proteins is still active.
Similar(55)
However, usually multiple mutational processes are operative in a single cancer sample, and combining their mutations generates a mixed composition of the patterns of somatic mutations.
Because repetitions have been avoided, as described previously, each matching probe relates unambiguously to a single position in the target sequence (unless previously unseen mutations generate a sequence that is repeated elsewhere in the probe library [11]).
Nonsense mutations generate a premature stop codon and often a non-functional truncated protein product.
Such mutations generated a total of eleven AAS related to drug resistant.
In toeprinting assays, these deletion mutations generated a pretranslocation toeprint at the same position as the WT RNA using the antibiotic edeine as an inhibitor in the lysate.
Five δ-sarcoglycan mutations generate a protein with a truncated extracellular domain and cause clinical phenotypes from LGMD to DMD-like in homozygous patients.
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