Sentence examples for pathogenic missense from inspiring English sources
This ratio indicates the fraction of pathogenic missense with the same degree of pathogenicity as nonsense mutations that have been described in HGMD (see Materials and Methods).
A study by Sterne-Weiler and colleagues (2014) found that approximately 25% of all pathogenic missense or nonsense mutations actually caused abnormal splicing [4].
We sought to use this newly developed ex vivo system as a novel tool to generate cell models expressing a human frataxin cDNA carrying pathogenic missense mutations.
Indeed, it has been shown previously that many coevolved positions are located at or near functionally important sites [16], [24] and pathogenic missense mutations can be compensated by another mutation to restore the fitness [6], [9].
In the present work, we developed novel cellular models deleted for endogenous murine frataxin and expressing a human frataxin cDNA carrying pathogenic missense mutations resulting in a classical (I154F) and an atypical (G130V) FRDA clinical presentation.
71% of pathogenic missense substitutions are assigned P pathogenic)>0.9.
They identified 26 pathogenic SPRED1 mutations in 33 probands and 7 probable non-pathogenic missense mutations in 9 probands.
It will be necessary to confirm the potential pathogenic-missense mutation (gene-gene) interaction findings of this study by a larger-scale study designed specifically to examine the joint effects of radiation exposure and genetic susceptibility of breast cancer risk (for example the Women's Environmental Cancer and radiation epidemiology ('WECARE') study [ 45]).
As reported, the probability of finding a novel pathogenic CDH1 missense mutation (including also non-missense mutations) is higher in GC low-risk areas.
The dataset in this study included 398 known pathogenic BRCA1 missense mutation carriers (mainly C61G), and 44 pathogenic BRCA2 missense mutation carriers with information on ER status or grade.
The Trp31Cys mutation is a new pathogenic SPRED1 missense mutation.
