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Exact(19)
It is predicted as a "damaging" mutation by SIFT, and "probably damaging" by PolyPhen-2.
A pedigree of the patient BC134 harboring the novel damaging mutation c.464delA in BRCA1.
A pedigree of the breast cancer (BC) patient BC205 harboring the novel damaging mutation c.5397_5403delCCCTTGG in BRCA1.
It means that Dr Schneider can tell whether or not the signal from any particular binding site is too noisy to be useful in other words, whether it is a damaging mutation.
Three BALB specific single nucleotide polymorphisms (SNPs) were found in the Duox2 gene: H627R has only partial conservation among species (36%), but was predicted to be a damaging mutation according to Polyphen with a position specific independent count (PSIC) of 1.524.
The smaller the score, the more likely that the query mutation is a damaging mutation.
Similar(41)
They suggested that purifying selection was intense in large populations, essentially precluding fixation of significantly damaging mutations, whereas mutation with substantial damaging effects could be fixed by random drift in small populations.
However, he could see such potential uses of "germ-line therapies" for men left infertile by damaging mutations.
We identified possibly damaging mutations in six genes within the Mrip1 region: Duox2, Bubr1, Mertk, Dll4, Casc5 and Bub1 (Table 4).
With regard to SIFT, damaging mutations were classified as pathogenic.
Chromosomes have more freedom to retain 'good' or useful mutations, and slough off damaging mutations.
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