| Health / Medical Topics |
Missense Mutation Abnormality
A point mutation in a coding DNA sequence that causes a base change which results in an amino acid change in the protein product. This alteration may affect the stability and/or activity of the protein. A missense mutation abnormality may be heritable or occur spontaneously. (NCI Thesaurus)
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A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected. …
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