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In contrast, mutations associated with dystonia-parkinsonism do not impair catalytic activity, and two mutations produce a significant increase in specific activity for phospholipid but not lysophospholipid substrates.
A-band TTN truncation mutations produce a shorter TTN protein with impaired M-band signaling.
Specific mutations produce a given degree of enzymatic compromise thus producing a clinical form of 21OH enzyme deficiency.
These mutations produce a truncated full-length protein (20 kDa) that enhances the alternative translation of the 30 kDa isoform.
As with the yeast ATP6 models of diseases (see above), pathogenic POLG mutations produce a similar degree of phenotypic severity in both yeast and humans.
Truncating mutations produce a protein lacking the transmembrane domain, and are thought to result in altered subcellular localization (Chen et al., 2011).
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However, the technique can only identify genes for which mutations produce an easily recognizable mutant phenotype, and so genes with subtle effects are often missed.
The trouble, they report in the current issue of Nature, was that each separate cluster of mutations produced a dead receptor, no matter which one was chosen first.
One category of mutations produces a protein that is able to insert itself into the membrane of the cell but contains a "rusty gate" that closes off the passage of chloride.
A series of experiments eventually showed that four mutations produced a virus that transmitted well among the animals, he said.
We recently established CAV3-encoded caveolin-3 as a novel LQTS-associated gene with mutations producing a gain-of-function, LQT3-like molecular/cellular phenotype.
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