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Linkage within a single subunit of a mutation that removes the inactivation gate to a second mutation that affects scorpion toxin sensitivity demonstrates that only a single gate is necessary to produce inactivation.
Analysis of the dATRX3 mutation that removes the long isoform shows no visible phenotype, aside from reduced viability of the flies.
S620T is a mutation that removes inactivation, and that is suspected to introduce conformational changes in the outer pore region in hERG.
We previously reported a mutation that removes the three genomic copies of miR-6, along with 5 other miRNAs, referred to here as the miR-6-cluster).
Other CdLS-related HDAC8 mutations exert a more direct effect on catalysis, such as the H180R mutation that removes a protein ligand to the catalytically obligatory Zn2+ ion.
Dlg interacts with Pins through its C-terminal guanylate kinase (GUK) domain, which is disrupted in cells homozygous for the mutant allele dlg 18 (also called dlg 1P20 ), a premature stop mutation that removes the last 43 amino acids of the protein [ 27, 28].
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We find that the IR-L element is affected minimally by mutations that remove Epe1 and or B-box elements, but the removal of both results in the spread of silencing.
A mAb that reacts with a sequence of mCRP that involves residue cysteine 36 (i.e., mAb 8C10) shows lesser reactivity with all rmCRP proteins, suggesting that the C36A, C97A mutations that remove the CRP subunit disulfide bond, do influence expression of the epitope recognized by this mAb.
Patients presenting with NOTCH1 mutations that remove the Fbw7 binding site do not have Fbw7 mutations upon relapse.
Interestingly, whereas MAGI-1L maintains a relatively high number of GLR-1 puncta, mutations that remove glr-2 abolish this maintenance of GLR-1 localization, suggesting that GLR-1 homomers, unlike GLR-1/GLR-2 heteromers, are not apparently regulated by MAGI-1L.
Mutations that remove hnRNP C-dependent repression can cause the activation of Alu exons.
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Justyna Jupowicz-Kozak
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