English: Selection of notable 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
Huntington's disease: CAG insertions, which adds a string of glutamines to Huntingtin
Friedreich's ataxia: In most cases, the mutant frataxin gene contains expanded GAA triplet repeats in the first intron;
Dentatorubral-pallidoluysian atrophy (DRPLA), caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein.
Kennedy's disease, caused by expansion of a CAG repeat in the first exon of the androgen receptor gene.
Fragile X Syndrome: CGG insertions on the X chromosome. Practically, however, these are not related to arginine, because the mutations are located in the 5' untranslated region.
CTG in myotonic dystrophy.
Spinocerebellar ataxia. Many types are caused by CAG repeats, see Wikipedia:Spinocerebellar ataxia#Treatment and prognosis for details.
Spinocerebellar ataxia: CTG
β-thalassemia (β-globin gene)
C to U resulting in stop signal UAG
also UGG to UGA
D1822V by GAC->GTC is the most common missense APC variant described to date in colorectal cancer.
A49T (GCC to ACC), V63M and V89L are the most common missense substitutions in prostatic or type II steroid 5alpha-reductase gene in prostate cancer tissue.
p.R50X is the most common nonsense mutation in myophosphorylase in McArdle's disease, the most common Glycogen storage disease
References
↑ Kimball's Biology Pages --> Mutations Retrieved on July 18, 2009. Author: John W. Kimball
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
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
La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (July 1991). "Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy". Nature352 (6330): 77–9. DOI:10.1038/352077a0. PMID 2062380.
Page 88 in: Title: COLOR ATLAS OF GENETICS. Author: CEBERHARD PASSARGE, M.D. ISBN: C1588903362, 9781588903365 Length: 486 pages
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.
Mutations By Professor A. Cuschieri.Department of Anatomy. University of Malta. Retrieved on July 18, 2009
Page 258 in: Colleen Smith; Lieberman, Michael; Marks, Dawn B.; Allan D. Marks (2009) Marks' Basic medical biochemistry: a clinical approach, Filadelfiya: Wolters Kluwer Health/Lippincott Williams & Wilkins ISBN: 0-7817-7022-X.
Guerreiro CS, Cravo ML, Brito M, Vidal PM, Fidalgo PO, Leitão CN (June 2007). "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. PMID 17556698.
Cleary SP, Kim H, Croitoru ME, et al. (October 2008). "Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk". Dis. Colon Rectum51 (10): 1467–73; discussion 1473–4. DOI:10.1007/s10350-008-9356-7. PMID 18612690.
↑ Hayes VM, Severi G, Padilla EJ, et al. (February 2007). "5alpha-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia". Int. J. Cancer120 (4): 776–80. DOI:10.1002/ijc.22408. PMID 17136762.
Makridakis N, Akalu A, Reichardt JK (September 2004). "Identification and characterization of somatic steroid 5alpha-reductase (SRD5A2) mutations in human prostate cancer tissue". Oncogene23 (44): 7399–405. DOI:10.1038/sj.onc.1207922. PMID 15326487.
García-Consuegra I, Rubio JC, Nogales-Gadea G, et al. (March 2009). "Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA". J. Med. Genet.46 (3): 198–202. DOI:10.1136/jmg.2008.059469. PMID 19251976.
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fayl, notable, mutations, fayl, faylın, tarixçəsi, fayl, keçidləri, faylın, qlobal, istifadəsi, metaməlumatlarbu, faylın, formatındakı, görünüşünün, ölçüsü, piksel, digər, ölçülər, piksel, piksel, piksel, piksel, piksel, piksel, faylın, orijinalı, 8206, faylı,. Fayl Faylin tarixcesi Fayl kecidleri Faylin qlobal istifadesi MetamelumatlarBu SVG faylin PNG formatindaki bu gorunusunun olcusu 800 474 piksel Diger olculer 320 189 piksel 640 379 piksel 1 024 606 piksel 1 280 758 piksel 2 560 1 515 piksel 2 980 1 764 piksel Faylin orijinali 8206 SVG fayli nominal olaraq 2 980 1 764 piksel faylin olcusu 456 KB Bu fayl Vikimedia Commons dadirve diger layihelerde istifade edile biler Faylin tesvir sehifesine get Mundericat 1 Xulase 1 1 Mutations mentioned 1 2 References 2 Lisenziya Xulase IzahNotable mutations svg English Selection of notable 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 1 Huntington s disease CAG insertions which adds a string of glutamines to Huntingtin 1 Friedreich s ataxia In most cases the mutant frataxin gene contains expanded GAA triplet repeats in the first intron 2 Dentatorubral pallidoluysian atrophy DRPLA caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin 1 protein 3 Kennedy s disease caused by expansion of a CAG repeat in the first exon of the androgen receptor gene 4 Fragile X Syndrome CGG insertions on the X chromosome 1 Practically however these are not related to arginine because the mutations are located in the 5 untranslated region CTG in myotonic dystrophy 5 Spinocerebellar ataxia Many types are caused by CAG repeats see Wikipedia Spinocerebellar ataxia Treatment and prognosis for details Spinocerebellar ataxia CTG 6 b thalassemia b globin gene C to U resulting in stop signal UAG 7 also UGG to UGA 8 D1822V by GAC gt GTC 9 is the most common missense APC variant described to date in colorectal cancer 10 A49T GCC to ACC 11 V63M and V89L 11 are the most common missense substitutions in prostatic or type II steroid 5alpha reductase gene in prostate cancer tissue 12 p R50X is the most common nonsense mutation in myophosphorylase in McArdle s disease 13 the most common Glycogen storage disease References a b c Kimball s Biology Pages gt Mutations Retrieved on July 18 2009 Author John W Kimball 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 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 La Spada AR Wilson EM Lubahn DB Harding AE Fischbeck KH July 1991 Androgen receptor gene mutations in X linked spinal and bulbar muscular atrophy Nature 352 6330 77 9 DOI 10 1038 352077a0 PMID 2062380 Page 88 in Title COLOR ATLAS OF GENETICS Author CEBERHARD PASSARGE M D ISBN C1588903362 9781588903365 Length 486 pages 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 Mutations By Professor A Cuschieri Department of Anatomy University of Malta Retrieved on July 18 2009 Page 258 in Colleen Smith Lieberman Michael Marks Dawn B Allan D Marks 2009 Marks Basic medical biochemistry a clinical approach Filadelfiya Wolters Kluwer Health Lippincott Williams amp Wilkins ISBN 0 7817 7022 X Guerreiro CS Cravo ML Brito M Vidal PM Fidalgo PO Leitao CN June 2007 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 PMID 17556698 Cleary SP Kim H Croitoru ME et al October 2008 Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk Dis Colon Rectum 51 10 1467 73 discussion 1473 4 DOI 10 1007 s10350 008 9356 7 PMID 18612690 a b Hayes VM Severi G Padilla EJ et al February 2007 5alpha Reductase type 2 gene variant associations with prostate cancer risk circulating hormone levels and androgenetic alopecia Int J Cancer 120 4 776 80 DOI 10 1002 ijc 22408 PMID 17136762 Makridakis N Akalu A Reichardt JK September 2004 Identification and characterization of somatic steroid 5alpha reductase SRD5A2 mutations in human prostate cancer tissue Oncogene 23 44 7399 405 DOI 10 1038 sj onc 1207922 PMID 15326487 Garcia Consuegra I Rubio JC Nogales Gadea G et al March 2009 Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA J Med Genet 46 3 198 202 DOI 10 1136 jmg 2008 059469 PMID 19251976 Tarix 19 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public domain by the copyright holder nbsp ingilisyaranma tarixi19 iyul 2009 Faylin tarixcesi Faylin evvelki versiyasini gormek ucun gun tarix bolmesindeki tarixlere klikleyin Tarix VaxtKicik sekilOlculerIstifadeciSerh indiki15 00 24 sentyabr 20092 980 1 764 456 KB Mikael Haggstromtried again 05 34 24 sentyabr 20092 980 1 764 456 KB Mikael Haggstromminor adjustment 05 30 24 sentyabr 20092 980 1 764 455 KB Mikael Haggstromupdate 11 07 25 iyul 20092 980 1 764 449 KB Mikael Haggstromremoved redundant text 08 54 22 iyul 20093 080 1 764 449 KB Mikael Haggstromuntransparented moved boxes to right explanation 05 49 22 iyul 20092 692 1 900 445 KB Mikael Haggstromspecified 3rd base 08 03 21 iyul 20092 692 1 900 444 KB Mikael Haggstrommoved s in Hungtinton 039 s into frame 07 27 20 iyul 20092 672 1 900 444 KB Mikael Haggstrom McArdle 039 s 19 08 19 iyul 20092 672 1 900 441 KB Mikael Haggstrom Information Description en 1 g Source Own work by uploader Author Mikael Haggstrom Date g Permission 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