Types of mutations and their impact on protein function Today's ...

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Mutations outside the coding sequence can also <strong>impact</strong> gene expression Promoter or enhancer* sequences Termination signals Splice donor <strong>and</strong> acceptor sites Ribosome binding sites *Enhancers are regulatory elements that specify where <strong>and</strong> when particular genes are expressed 16
Mutations are also classified by <strong>their</strong> <strong>impact</strong> on protein function: Loss <strong>of</strong> function Complete loss <strong>of</strong> the protein: null, loss-<strong>of</strong>-function, amorph Reduction <strong>of</strong> protein’s ability to work: hypomorph, reduction-<strong>of</strong>-function Gain <strong>of</strong> function Increase in the protein’s function: hypermorph, gain-<strong>of</strong>-function A protein that interferes with the wild-type protein’s function: antimorph, dominant negative Acquisition <strong>of</strong> a new function (or ectopic expression <strong>of</strong> the function): neomorph, dominant gain-<strong>of</strong>-function These terms are frequently misused, <strong>and</strong> also context-dependent 17
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Types of mutations and their impact on protein function Today's ...

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