Mutations

ID #1832

To say that an insertion mutation is a still active form of the normal (wild type) protein would be to say what? Active meaning what exactly?


If an insertion mutation is acquired, but it's in the sequence of an intron that isn't critical for accurate splicing, then the resulting protein would still be wild type, and would be able to do its job as normal. That's what we mean by its activity -- its ability to carry out its function, be that enzymatic, structural, or so on. Keep in mind though that if an insertion lands in the coding region of a gene or some important regulatory region, the resulting (if any) protein product will almost certainly be inactive; that is, have no function at all.

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