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Exact(5)
In the case of the human S321P mutation, the mutant protein cannot be detected in mitochondria of the liver and muscles [5].
When a user submits a mutation, the mutant protein is prepared in silico by replacing the target residue with the desired amino acid residue.
For the detection of the JAK2 exon 14 V617F mutation, the mutant allele-specific competitive blocker assay amplifies only the mutant allele.
When the standard slippery sequence is inactivated by mutation, the mutant with the C to U change in the alternate slippery site, but not that containing the wild-type sequence, stimulates frameshifting in in vitro translation assays.
It was previously reported that in a case with nonsense mutation the mutant mRNA was absent in lymphocytes because of nonsense mediated mRNA decay (NMD) and therefore postulated that haploinsufficiency alone can give rise to the PHA1 phenotype in patients with truncated mutations.
Similar(55)
In patients with NPM1 mutations, the mutant transcript was monitored by qRT-PCR in parallel with WT1, according to the method of Gorello et al (2006).
In four of the eight samples with MET mutations, the mutant alleles were present at 58-70%, suggesting an amplification of the mutant allele or a loss of the wt gene (Fig. 6).
To examine effects of specific tyrosine mutations, the mutants were transfected into HEK 293A cells and assayed for their effects on cell migration in the presence of ephrin-A5 using would-healing and transwell assays (Fig. 3).
It is noted that the HBx mutants with point mutations and the mutants with C-terminal truncation or deletion frequently coexist in the same HCC case.
The gyrA and parC QRDR mutations in the mutants (Phe/Phe and Phe/Tyr) matched those of the corresponding donor strains (CT01147 and UAB169).
To remove additional T-DNA loci or mutations from the mutants, we backcrossed them to wild-type plants and identified plants homozygous for the T-DNA insertion.
Related(19)
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mutation the Swedish
mutation the tradigenetic
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mutation the shuffled
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mutation the thalamic
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