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These mutations may impair the function of the resulting protein, and are thus rare in in vivo protein-coding sequences.
Thus, C-terminal KCNE1 mutations may impair the normal formation of KCNQ1/KCNE1 channels that are successfully trafficked to the plasma membrane.
Many of the implicated residues are located in highly conserved regions of the myosin II class, suggesting that these mutations may impair the basic functions of the molecular motor.
Mutations may impair pVHL function.
Mutations may impair Parkin activity, which might reduce the clearance and aggregation of proteins.
The other 15% mutations may impair substrate binding, which may indirectly still confer instability.
Similar(50)
Of note, when VAPwt and VAPP58S were coexpressed, the percentage of rescued males that eclosed was very similar to that observed with VAPP58S alone, suggesting that the ALS8-associated mutation may impair the function of the wild type protein, consistent with a dominant negative mode of action (Figure 2A).
The enzyme nicotinate phosphoribosyltransferase (PncB), the first committed enzyme in this pathway, has a nonsense mutation followed by a frameshift mutation that may impair or completely ablate its activity.
Finally, mutations in BCR-ABL may impair imatinib binding.
It has been recently proposed that mutations in cohesin genes may impair ribosome biogenesis by compromising nucleolar structure and function (Bose et al. 2012; Gard et al. 2009).
This finding also supports the idea that tau conformation can have different effects on synaptic function and memory, and tau mutations that promote pathological aggregation may impair hippocampal function.
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mutations may represent
mutations may result
mutations may affect
mutations may contribute
mutations may occur
mutations may arise
mutations may act
mutations may change
mutations may disrupt
mutations may cause
mutations may reduce
mutations may identify
mutations may increase
mutations may play
mutations may die
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