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A familial CCM2 missense mutation abrogates the CCM1/CCM2 interaction, suggesting that loss of this interaction may be critical in CCM pathogenesis.
These data indicated that this missense mutation abrogates the DNA-binding activity of IRF-5P68.
This mutation abrogates the antisigma factor activity of RseA (Fig. 2A and [16]).
This mutation abrogates the targeting of MHC I molecules to endolysosomal compartments where they may undergo peptide exchange and acquire exogenously derived antigens for cross-presentation [5], [6].
We show that this mutation abrogates the ability of Shroom3 to bind to Rock.
All these results demonstrated that the Y291F mutation abrogates the TRK-T3 interaction with Shc and FRS2 adaptors and, consequently, its biological activity.
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The C151S mutation abrogated the survival-promoting activity of MANF almost completely.
However, on flow cytometry, the N32Q mutation abrogated the effect on cell survival, whereas the N44Q mutation had no effect.
We subsequently assessed whether the presence of the P95A mutation abrogated the interaction between PINK1 and PARL.
Similarly, the K192R mutation abrogated the SET7/9-dependent methylation of fragment 190 to 219 (Additional file 2, Figure S2D).
Moreover, analysis of a mutant form of Fld1p carrying the single amino acid substitution G228P, which mimics A212P in the human protein, suggested that this mutation abrogated the ability of seipin to form this oligomeric structure.
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