Missense mutation

Missense mutation
Term	Missense mutation
Short definition	missense mutation - (pronounced) (MIS-sens myoo-TAY-shun) change in the DNA sequence of a gene that results in an amino acid (protein building block) being replaced by an amino acid other than the usual amino acid at that position in the gene. Some missense mutations have little or no effect on the protein's function, while others can alter the protein's function.
Type	Cancer terms
Specialty	Oncology
Language	English
Source	NCI
Comments

missense mutation - (pronounced) (MIS-sens myoo-TAY-shun) change in the DNA sequence of a gene that results in an amino acid (protein building block) being replaced by an amino acid other than the usual amino acid at that position in the gene. Some missense mutations have little or no effect on the protein's function, while others can alter the protein's function. Also called missense variant

External links

• Medical encyclopedia article on Missense mutation
• Wikipedia's article - Missense mutation

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