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Exact(7)
By examining the effects of the phosphorylation site mutations on NIK-mediated nuclear relocalization of rpL10, we found a perfect correlation on the ability of the mutations to affect tolerance and rpL10 nuclear relocation.
Thus, an alternative explanation for the apparent failure of EF-hand mutations to affect the STIM-2 inhibitory action [18] may be less efficient transmission of Ca2+-binding induced conformational changes to the SAM domain and/or the cytoplasmic protein domains in STIM-2.
In this study we used yellow variegating reporters located in regions 57h (B79) and 49h (J545) of chromosome 3, and within centric region 10h of chromosome Y (J448) [33], [33] to evaluate the ability of vig and vig2 mutations to affect PEV.
Mtz resistance was even further diminished when the Mtz-sensitizing alleles furR3S or furR3D were combined with furH99* (stop) (Fig. 2, 4A,D), which indicates that neither an ability to bind iron nor dimerization is needed for codon 3 mutations to affect Fur protein activity.
The output for each sequence predicts the potential of mutations to affect different sites.
This hypothesis is supported by in vitro expression studies that have demonstrated AP2S1 mutations to affect CaSR cell-surface expression and signal transduction (11).
Similar(53)
These observations suggest that environmental factors interact with the mutation to affect outcome.
We thus conclude that, in our system, pleiotropic mutations tend to affect protein coding sequences, whereas mutations causing rQTL effects are more likely cis-regulatory.
The DNA array uses specific oligonucleotide probes for FH-causing mutations with the more frequent LDLR mutations known to affect certain country and which are regularly updated.
Although there are a few of disease mutations identified in regions of ATRXDBM and DAXXDHB, none of these mutations seems to affect DAXX-ATRX interaction (Fig. S3).
The most common type of mutation were single nucleotide deletions (16/21, 76%) and all frameshift mutations appeared to affect only one allele (heterozygous).
Related(20)
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