Sentence examples for mutation is functional from inspiring English sources

The same mutation p.Pro12Leu was found in exon 2 in two patients; according to both the IARC International Agencyy for Research on Cancer) TP53 mutational database and UMD (Universal Mutation Database) TP53 mutation database, this mutation is functional in yeast but extremely rare.

Different kinds of software like polyphen-2 [39] and SIFT [40] have been developed to predict to which extent a variant or mutation is functional.

In the functional assay five conserved mutations were functional (S182T, W183Y, L184I, I187L, I190L).

To identify which of the mutations were functional, promoter constructs were prepared with a dibasic change (−270_−269AA), a single base change (−220A), and a construct with both changes (−270_−269AA and −220A) (Fig. 1C).

In yeast we show that PD-linked VPS35 mutations are functional and can normally complement VPS35 null phenotypes suggesting that they do not result in a loss-of-function.

Even though the repeat expansion mutation is a functional null mutation, few conventional mutations have been identified at this locus, largely due to the clinical laboratory focus on the repeat tract.

This could be because either a mutation is not functional (false positive) or below the limit of detection (false negative).

Although the A89V mutation is not functional in vision, BBS3 A89V RNA is able to suppress the cardinal zebrafish BBS phenotype of melanosome transport.

Ellis and Perou [ 24] addressed that SH2 domain missense mutation D197Y at breast cancer is functional.

We are quite confident that the p.Q485H mutation is likely to be functional given the non ambiguous prediction of its putative damaging effect.

The conservation analysis using the PROVEAN tool predicted that the F380S mutation could be functional (observed score −7.673; cut-off score −2.5).