| The latter harbor the ortholog of the most frequently encountered human R350P desmin missense mutation. |
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| Previously, only one particular missense mutation was thought to impact greatly on breast cancer risk. |
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| If this change results in a functionally different amino acid, then a missense mutation may result. |
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| Only three of the mutations are of the missense type as they result in the replacement of one amino acid with another. |
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| All mutations, including the missense mutations, result in nearly absent alpha-fucosidase activity. |
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| All families harbored compound heterozygous mutations, most commonly a truncating mutation combined with a missense mutation. |
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| Protein modeling demonstrated that the missense mutation is damaging and may alter binding to ATP molecules. |
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| Structural analysis of missense mutations causing isolated sulfite oxidase deficiency. |
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| Thus, MGCD265 inhibits signaling through both wild type and mutant forms of Met and may benefit patients with cancers in which Met is activated due to missense mutations. |
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| A further two types of substitution are less common but potentially have more serious effects than missense mutations. |
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| Using missense mutants to test the ability of Hsp60 and Hsp70 chaperones to rescue misfolded proteins. |
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| The genetic study conducted identified a pathogenic change C698G, a missense mutation in FH gene. |
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| This causes a missense mutation in which a G-C pair is replaced by an A-T pair after replication. |
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| The capsular gene clusters were sequenced entirely, and a missense mutation within synD was identified. |
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| The SNP1-Taql locus was located at exon 2 and mutated from G to A, resulting in a missense mutation, CGA to CAA, which could be genotyped by the Taql PCR-RFP method. |
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| Bioinformatics tools were used to confirm this, and to determine the probable pathogenicity of the novel missense mutation in exon 7 and the 5'UTR sequence change. |
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| For Beijing genotype strains, the increase in mutation frequency during exposure to RIF could be due to described missense mutations in the mut genes. |
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| Missense mutations in human PAX6 tend to cause either milder forms of aniridia or other eye disorders, such as displaced pupils or Peters anomaly. |
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