Each panel shows residues (in blue) where a mutation resulted in decreased activation by the specific ligand.
Objectives: We aimed to investigate if this mutation resulted in excessive BKV excretion in HC patients.
14-3-3ε 14-3-3ε 14-3-3ε 14-3-3εive weresidues whose mutation resulabeled the impasrment of one of the Cc-binding sites: active Lys50, Ser59, and Glu92.
Interestingly, the PADI4 mutation resulted in dramatic downregulation of mRNA transcripts in patient 1 with the A359T mutation in his CD8+Vβ13.1+ cell population.
The gene MOS12 encodes an arginine-rich protein that is homologous to human cyclin L and the mos12-1 mutation resulted in altered splicing patterns of RPS4 and another R gene SNC1 21.
This conclusion explained mono-ADP-ribosylated H3R117 mutation resulted in relative low H3K27me3 level with more poly-ADP-ribosylation on TET1 promoter, probably due to increasing poly-ADP-ribosylation impacted function of EZH2, which in turn reduced EZH2-mediated H3K27me3.
Hereby the point mutation resulted in higher affinity of G6P dehydrogenase towards NADP and reduced sensitivity against inhibition by ATP, PEP and FBP.
The Leu308Val mutation resulted in 13-fold and 3-fold reductions in the inhibitory potencies of DCL and 3-bromo-5-phenylsalicylic acid (BPSA), respectively.
Similarly, the exon 45 donor splice site mutation resulted in retention of intron 45 (∼36,110 bases) in the mature mRNA, again rendering conventional RT-PCR analysis impossible.
In addition, the M369E mutation resulted in a small increase in catalytic efficiency for cleavage of p-nitrophenyl β-d-galactoside.
It is likely that the R249S mutation resulted in an ensemble of native and native-like conformations in a dynamic equilibrium.
