Millat, G. et al. Niemann Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.
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).
How to resolve this ambiguity, again by finding the more frequent mutant?
However, BBR exhibited little effect on the Gli-luciferase activity stimulated by SmoM2 (Fig. 3d), a frequent mutant found in cancers [ 29].
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].
However, p53 with a point mutation (R175H) at the DNA binding domain, a frequent mutant in cancer, had no effect on RoR expression.
In addition to these frequent mutant features, a number of other mutant phenotypes with altered agronomic traits (such as number of tillers, lodging, early senescence, altered seed size, and flowering time) were also observed.
Toward this end, p53 with a point mutation (R175H) at the DNA-binding domain, a frequent mutant in diverse cancer, had no impact on PANDAR expression, indicating that PANDAR is specifically induced by WT p53.
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.
