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Exact(9)
Just nine sites carry only silent mutations indicating a preponderance of changes with effects on polypeptide sequence.
The screenings yielded 5 AsCslF6 mutations and 6 AsPAL1 mutations, indicating a mutation frequency of one mutation in 38 kb and one mutation in 38.5 kb, respectively.
Genetic studies show that a gain-of-function mutation of dpy-17 suppresses phenotypes of dpy-31 mutations, indicating a genetic interaction between the two.
It describes local sequence environment in terms of surface exposure and appears to be lower for positions with deleterious mutations, indicating a homogeneous environment (for example, most of the neighboring residues are predicted to be buried).
The E2-independent activity of HOIPRBR-LDD was not affected by the RING1 mutations, indicating a classical RING-type role for RING1 where the RING domain catalyses the transfer from the E2 onto a target site.
Our technique allowed us to distinguish heterozygous mutants from homozygous mutants, as well as identify samples that contained more than two different types of mutations indicating a mixed clone.
Similar(51)
Finally, the microarray detected 22 out of the 23 known missense mutations, but it failed to detect all 7 known insertion and deletion (indels) mutations, indicating an overall sensitivity of 73.33% and a sensitivity with respect to missense mutations of 95.65%.
An incremental increase in sequencing coverage from 36X to 132X in melanoma tissue samples and 30X to 103X for cell lines only resulted in a small increase (1 2%) in the number of mutations detected, and the quality scores of the additional mutations indicated a low probability that the mutations were real.
The presence of such mutations indicates a potential change of function or expression level.
Interestingly, the phenotypic variation seen with these latter two mutations indicates a genotype phenotype correlation, as proposed in a small study.
A higher percentage of single heterozygous mutations indicates a greater importance of dominant-negative effect, as has been shown for genes such as IDH1 or EGFR [ 13, 14].
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