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| Keywords: Notable mutations.svg mutations ordered in a standard table of the genetic code of amino acids As can be seen clinically important missense mutations generally change the properties of the coded amino acid residue between being basic acidic polar or nonpolar while nonsense mutations result in a stop codon In the case of cancers mutations cause aggravation of the conditions by impairing tumor suppressors or activating oncogenes 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 <ref name kimball>http //users rcn com/jkimball ma ultranet/BiologyPages/M/Mutations html Kimball's Biology Pages --> Mutations Retrieved on July 18 2009 Author John W Kimball</ref> Huntington's disease CAG insertions which adds a string of glutamines to Huntingtin<ref name kimball/> Friedreich's ataxia In most cases the mutant frataxin gene contains expanded GAA triplet repeats in the first intron;<ref>http //hmg oxfordjournals org/cgi/content/abstract/6/8/1261 The Friedreich ataxia GAA triplet repeat premutation and normal alleles L Montermini E Andermann M Labuda A Richter M Pandolfo F Cavalcanti L Pianese L Iodice G Farina A Monticelli M Turano A Filla G De Michele and S Cocozza Human Molecular Genetics Vol 6 1261-1266</ref> Dentatorubral-pallidoluysian atrophy DRPLA caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein <ref>http //www pubmedcentral nih gov/articlerender fcgi artid 1692599 Molecular pathology of dentatorubral-pallidoluysian atrophy I Kanazawa Philos Trans R Soc Lond B Biol Sci 1999 June 29; 354 1386 1069 “1074 PMCID PMC1692599 </ref> Kennedy's disease caused by expansion of a CAG repeat in the first exon of the androgen receptor gene <ref name pmid2062380 > cite journal La Spada AR Wilson EM Lubahn DB Harding AE Fischbeck KH Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy Nature 352 6330 77 “9 1991 July 2062380 10 1038/352077a0 </ref> Fragile X Syndrome CGG insertions on the X chromosome <ref name kimball/> Practically however these are not related to arginine because the mutations are located in the 5' untranslated region CTG in myotonic dystrophy <ref>http //books google com/books id j7lAYPZick4C printsec frontcover source gbs_navlinks_s v onepage q f false Page 88 in Title COLOR ATLAS OF GENETICS Author CEBERHARD PASSARGE M D ISBN C1588903362 9781588903365 Length 486 pages</ref> Spinocerebellar ataxia Many types are caused by CAG repeats see Wikipedia Spinocerebellar ataxia Treatment and prognosis for details Spinocerebellar ataxia CTG <ref>http //content karger com/ProdukteDB/produkte asp Doi 72852 Molecular genetics of spinocerebellar ataxia type 8 SCA8 A K Mosemillera c J C Daltona c J W Dayb c L P W Ranuma c Nucleotide and Protein Expansions and Human Disease </ref> β-thalassemia β-globin gene C to U resulting in stop signal UAG <ref name Cuschieri>http //staff um edu mt/acus1/5Mutations htm Mutations By Professor A Cuschieri Department of Anatomy University of Malta Retrieved on July 18 2009</ref> also UGG to UGA<ref name Marks>http //books google se/books id HHK7S7t47BEC pg PA258 lpg PA258 dq missense+mutations+examples+replaced+by source bl ots e6vrSM_ZUJ sig IoY0mtFrbJPctDjKhJmABRWoS9c hl sv ei GfxhSqmcGIzz-QbRkKybDw sa X oi book_result ct result resnum 5 Page 258 in cite book Colleen Smith; Lieberman Michael; Marks Dawn B ; Allan D Marks Marks' Basic medical biochemistry a clinical approach Wolters Kluwer Health/Lippincott Williams Wilkins Philadelphia 2009 0-7817-7022-X </ref> D1822V by GAC->GTC<ref> cite journal Guerreiro CS Cravo ML Brito M Vidal PM Fidalgo PO Leitão CN The D1822V APC polymorphism interacts with fat calcium and fiber intakes in modulating the risk of colorectal cancer in Portuguese persons Am J Clin Nutr 85 6 1592 “7 2007 June 17556698 </ref> is the most common missense APC variant described to date in colorectal cancer <ref> cite journal Cleary SP Kim H Croitoru ME et al Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk Dis Colon Rectum 51 10 1467 “73; discussion 1473 “4 2008 October 18612690 10 1007/s10350-008-9356-7 </ref> A49T GCC to ACC <ref name Hayes> cite journal Hayes VM Severi G Padilla EJ et al 5alpha-Reductase type 2 gene variant associations with prostate cancer risk circulating hormone levels and androgenetic alopecia Int J Cancer 120 4 776 “80 2007 February 17136762 10 1002/ijc 22408 </ref> V63M and V89L<ref name Hayes/> are the most common missense substitutions in prostatic or type II steroid 5alpha-reductase gene in prostate cancer tissue <ref> cite journal Makridakis N Akalu A Reichardt JK Identification and characterization of somatic steroid 5alpha-reductase SRD5A2 mutations in human prostate cancer tissue Oncogene 23 44 7399 “405 2004 September 15326487 10 1038/sj onc 1207922 </ref> p R50X is the most common nonsense mutation in myophosphorylase in McArdle's disease <ref> cite journal GarcÃa-Consuegra I Rubio JC Nogales-Gadea G et al Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA J Med Genet 46 3 198 “202 2009 March 19251976 10 1136/jmg 2008 059469 </ref> the most common Glycogen storage disease References reflist Derivative of en File GeneticCode21-version-2 svg Public Domain license Mikael Häggström 2009-07-19 thumb left 300px png-format Amino acid substitution Genetic code Mutations Point mutation | ||||
