Particularly, the most frequent mutant ALK proteins p.F1174L and p.R1275Q demonstrated gain-of-function kinase activity [3], [21], [26] [27].
In cystic fibrosis (CF), the most frequent mutant variant of the cystic fibrosis transmembrane conductance regulator (CFTR), F508del-CFTR protein, is misfolded and retained in the endoplasmic reticulum (ER).
In the former, the most frequent mutant haplotype is the NAT2*5 cluster (45%), followed by the NAT2*6 cluster (28%) and the NAT2*7 cluster (2%) [ 31].
PCR products were then analyzed by denaturating high performance liquid chromatography (DHPLC) for the most frequent mutant TPMT alleles, according to the method developed by Schaeffeler et al. on an analysis system from Transgenomics.
Overall, the pattern appears to agree with that of the z/z percentages shown in Figure 3, where the second percentile is the most frequent mutant type and is followed by the third.
If both deletions and duplications are counted together, the most frequent mutant region occurs within exons 45 55 (41.06%) in the DMD gene, followed by exons 21 44 (30.43%), exons 1 20 (25.32%) and exons 56 79 (3.19%).
Conversely, adenovirus mediated wild-type FLCN or FLCN/FNIP1 expression suppressed GPNMB mRNA expression more than 2 fold, but mutant FLCN (c.1285dupC, most frequent mutation in BHD syndrome), mutant FLCN/FNIP1 or FNIP1 alone did not suppress GPNMB expression in UOK257 cells (Fig. 1F).
First, mDEL1 is the most frequent mutation type, with ∼10 such mutants included in the plated population.
The OC-related mutation I117V was the most frequent mutation, and it accounted for 63% of all mutants.
The KRAS mutation profile according to gender correlated well with the overall KRAS mutant type, being Gly12Asp (GGT > GAT) the most frequent mutation in each gender.
