We believe that the R225W variant is affecting AMPK activity without affecting the level of transcription or translation of the PRKAG3 gene.
The locations of these modifications can be used to indicate whether a genetic variant is affecting this process in some way and is thus useful in determining the functional importance of associated variants.
Indeed, when we classified the cohort, we observed that the frequency of nt13708A variant was affected by, both, age and geographic origin.
The NIH 3T3 cell line expressing the FGFR3-TACC3 V555M variant was affected only by TKI258 (Fig. 4D, right panel).
In Study 2, we investigated how the power to detect genetic variants is affected by all five violations of MI.
In this report, we show that the occurrence of amino acid variants is affected by the structural and functional restraints.
Most pigmentation phenotype variants are affected by genetic factors in both humans [ 7- 9] and animals [ 10- 17].
To assess whether relative amounts of BAF60 variants were affected, we performed CoIPs using anti-Brg1 antibody.
All 23 patients with two likely disease-causing variants were affected with adult-onset retinitis pigmentosa (Table 1).
As demonstrated in Figure 4, cells expressing vinculin variants are affected by the phosphorylation state at Y1065, as indicated by their ability to spread on FN.
