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Missense mutation
In
genetics
, a
missense mutation
(a type of
nonsynonymous substitution
) is a
point mutation
in which a single nucleotide change results in a
codon
that codes for a different
amino acid
. Another type of nonsynonymous substitution is a
nonsense mutation
in which a codon is changed to a premature
stop codon
that results in truncation of the resulting
protein
. Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for diseases such as
Epidermolysis bullosa
,
sickle-cell disease
, and
SOD1
mediated
ALS
.
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