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Recent studies revealed that several neurodevelopmental disorders are caused by mutations of specific tubulin isotypes, suggesting that each tubulin isotype has distinct functions.
Genetic testing is used to determine whether women with a family history of breast cancer carry mutations of specific genes, which significantly increase breast cancer risk and are believed to be responsible for between five and 10 per cent of all breast cancers.
In the absence of auxiliary subunits, mutations of specific S4 residues mimic the gating phenotypes produced by co-assembly of Kv7.1 with either KCNE1 or KCNE3.
The mutations of specific enzymes would redirect the flux to other products.
Accordingly, mutations and expression analyses demonstrated distinct molecular signatures associated with mutations of specific functional domains.
For example, mutations of specific nucleotide change (e.g., C->T in melanoma), or mutations causing critical amino acid changes or protein structure alterations, will likely be more informative.
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Cancer is currently attributed to the mutation of specific genes, which are called oncogenes.
Mutation of specific Cys residues in the putative zinc finger region abolished zinc binding and drastically reduced phosphatase activity, suggesting an allosteric role of zinc in catalysis.
Mutation of specific charged and polar residues on MHs 4 6 resulted in a decrease or loss of protein activity as measured by complementation assays in yeast.
These results support the hypothesis that mutation of specific residues in Lhp1 changes its Karyopherin preference.
However, mutation of specific amino acids of hANT4 improved yeast mitochondrial expression and supported growth of the AAC-deficient yeast on non-fermentable carbon sources.
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