Effect of Mutation on Protein Function

Figure 11-1 A general outline of the mechanisms by which disease-causing mutations produce disease. Mutations in the coding region result in structurally abnormal proteins that have a loss or gain of function or a novel property that causes disease. Mutations in noncoding sequences are of two general types: those that alter the stability or splicing of the messenger RNA (mRNA) and those that disrupt regulatory elements or change gene dosage. Mutations in regulatory elements alter the abundance of the mRNA or the time or cell type in which the gene is expressed. Mutations in either the coding region or regulatory domains can decrease the amount of the protein produced. HPFH, Hereditary persistence of fetal hemoglobin.

Loss-of-Function Mutations

The severity of a disease due to loss-of-function mutations generally correlates with the amount of function lost. In many instances, the retention of even a small percent of residual function by the mutant protein greatly reduces the severity of the disease.

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Nov 27, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on Effect of Mutation on Protein Function

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