File:Notable mutations.svg

Summary

Selection of notable <a href="https://en.wikipedia.org/wiki/mutation" class="extiw" title="en:mutation">mutations</a>, ordered in a standard table of the <a href="https://en.wikipedia.org/wiki/genetic_code" class="extiw" title="en:genetic code">genetic code</a> of <a href="https://en.wikipedia.org/wiki/amino_acid" class="extiw" title="en:amino acid">amino acids</a>.

As can be seen, clinically important <a href="https://en.wikipedia.org/wiki/missense_mutation" class="extiw" title="en:missense mutation">missense mutations</a> generally change the properties of the coded amino acid residue between being basic, acidic, polar or nonpolar, while <a href="https://en.wikipedia.org/wiki/nonsense_mutation" class="extiw" title="en:nonsense mutation">nonsense mutations</a> result in a <a href="https://en.wikipedia.org/wiki/Stop_codon" class="extiw" title="en:Stop codon">stop codon</a>.

In the case of cancers, mutations cause aggravation of the conditions by impairing <a href="https://en.wikipedia.org/wiki/Tumor_suppressor_gene" class="extiw" title="en:Tumor suppressor gene">tumor suppressors</a> or activating <a href="https://en.wikipedia.org/wiki/Oncogene" class="extiw" title="en:Oncogene">oncogenes</a>.

Every U (uracil) in the mRNA corresponds to a T (thymine) in the original DNA. Therefore, mutations are often noted using T rather than U.

Mutations mentioned

• Sickle-cell disease: GAG to GTG in the hemoglobin gene ^{<a href="#cite_note-kimball-1">[1]</a>}
• Huntington's disease: CAG insertions, which adds a string of glutamines to Huntingtin^{<a href="#cite_note-kimball-1">[1]</a>}
• Friedreich's ataxia: In most cases, the mutant frataxin gene contains expanded GAA triplet repeats in the first intron;^{<a href="#cite_note-2">[2]</a>}
• Dentatorubral-pallidoluysian atrophy (DRPLA), caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein.^{<a href="#cite_note-3">[3]</a>}
• Kennedy's disease, caused by expansion of a CAG repeat in the first exon of the androgen receptor gene.^{<a href="#cite_note-pmid2062380-4">[4]</a>}
• Fragile X Syndrome: CGG insertions on the X chromosome.^{<a href="#cite_note-kimball-1">[1]</a>} Practically, however, these are not related to arginine, because the mutations are located in the <a href="https://en.wikipedia.org/wiki/5%27_untranslated_region" class="extiw" title="en:5' untranslated region">5' untranslated region</a>.
• CTG in myotonic dystrophy.^{<a href="#cite_note-5">[5]</a>}
• Spinocerebellar ataxia. Many types are caused by CAG repeats, see <a href="https://en.wikipedia.org/wiki/Spinocerebellar_ataxia#Treatment_and_prognosis" class="extiw" title="wikipedia:Spinocerebellar ataxia">Wikipedia:Spinocerebellar ataxia#Treatment and prognosis</a> for details.
  • Spinocerebellar ataxia: CTG ^{<a href="#cite_note-6">[6]</a>}
• β-thalassemia (β-globin gene)
  • C to U resulting in stop signal UAG ^{<a href="#cite_note-Cuschieri-7">[7]</a>}
  • also UGG to UGA^{<a href="#cite_note-Marks-8">[8]</a>}
• D1822V by GAC->GTC^{<a href="#cite_note-9">[9]</a>} is the most common missense APC variant described to date in colorectal cancer.^{<a href="#cite_note-10">[10]</a>}
• A49T (GCC to ACC)^{<a href="#cite_note-Hayes-11">[11]</a>}, V63M and V89L^{<a href="#cite_note-Hayes-11">[11]</a>} are the most common missense substitutions in prostatic or type II steroid 5alpha-reductase gene in prostate cancer tissue.^{<a href="#cite_note-12">[12]</a>}
• p.R50X is the most common nonsense mutation in myophosphorylase in <a href="https://en.wikipedia.org/wiki/McArdle%27s_disease" class="extiw" title="en:McArdle's disease">McArdle's disease</a>,^{<a href="#cite_note-13">[13]</a>} the most common <a href="https://en.wikipedia.org/wiki/Glycogen_storage_disease" class="extiw" title="en:Glycogen storage disease">Glycogen storage disease</a>

References

Licensing

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