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Missense mutation is a type of nonsynonymous substitution in a DNA sequence. Two other types of nonsynonymous substitution are the nonsense mutations, in which a codon is changed to a premature stop codon that results in truncation of the resulting protein, and the nonstop mutations, in which a stop codon erasement results in a longer ...
In addition, sequencing analysis detected a new missense mutation in the Filipino population, H131Q, that was significantly more frequent in cases than in matched controls. [9] The gene-poor regions either side of the MAFB gene include numerous binding sites for transcription factors that are known to have a role in palate development. [11]
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Arboleda-Tham syndrome (ARTHS), [10] also referred to as KAT6A Syndrome (Arboleda-Tham Syndrome), is a rare autosomal dominant developmental disorder, caused by various missense, nonsense, and frameshift mutations in the KAT6A gene. The main characteristics of this syndrome are developmental delay, impaired intellectual development, speech ...
Site-directed mutagenesis is a technique often employed to create knock-in and knock-out models that express missense mRNAs. For example, in knock-in studies, human orthologs are identified in model organisms to introduce missense mutations, [7] or a human gene with a substitution mutation is integrated into the genome of the model organism. [8]
It is estimated that only 1 ⁄ 4 of diagnosed individuals did not inherit the condition but rather acquired the syndrome via a de novo mutation. [4] Symptoms emerge between the life stages of puberty to early adulthood (around 30 years old). [citation needed] This is the result of a mutation in the FOXC2 gene. [5]
The PTEN pseudogene, PTENP1 is a processed pseudogene that is very similar in its genetic sequence to the wild-type gene. However, PTENP1 has a missense mutation which eliminates the codon for the initiating methionine and thus prevents translation of the normal PTEN protein. [47] In spite of that, PTENP1 appears to play a role in oncogenesis.
On the other hand, if a missense mutation occurs in an amino acid codon that results in the use of a different, but chemically similar, amino acid, then sometimes little or no change is rendered in the protein. For example, a change from AAA to AGA will encode arginine, a chemically similar molecule to the intended lysine.