Mutation Details for c.1652G>A

cDNA Name c.1652G>A 
Protein Name p.Gly551Asp 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name G551D 
Other Details This mutation has been found in six Caucasian CF chromosomes out of 155 eamined for a frequency of 4 %. It has not been found on any Black CF chromosomes. This mutation appears to be associated with a particular ten site haplotype shown on the following pages. We have not detected this mutation on any normal Caucasian chromosomes with similar haplotypes or other haplotypes. 
Contributors Cutting GR   1990-01-08
Institute Johns Hopkins Hospital Baltimore, MD, USA 
Phenotype Information CFTR2
Reference Cutting et al. 1990a 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Anvret M, Dahl N   [Diagnosis of cystic fibrosis with DNA techniques].   1991 001 30;88(5):316-7
  • Artlich A, Boysen A, Bunge S, Entzian P, Schlaak M, Schwinger E   Common CFTR mutations are not likely to predispose to chronic bronchitis in northern Germany.   1995 002;95(2):226-8
  • Aspillaga M, Avendano I, Largo I, Valenzuela C, Riveros N, Orellana O, Moreno MA   [Molecular genetic study of cystic fibrosis in the Chilean population. Relationship to its clinical expression].   1993 011;121(11):1233-9
  • Axton RA, Brock DJ   A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations.   1995;5(3):260-2
  • Axton RA, Brock DJ   Use of stable dye-DNA intercalating complexes to detect cystic fibrosis mutations.   1994 006;8(3):245-50
  • Baranov VS, Gorbunova VN, Ivaschenko TE, Shwed NYu , Osinovskaya NS, Kascheeva TK, Lebedev VM, Mikhailov AV, Vakharlovsky VG, Kuznetzova TV   Five years' experience of prenatal diagnosis of cystic fibrosis in the former U.S.S.R.   1992 007;12(7):575-86
  • Bayleran JK, Yan H, Hopper CA, Simpson EM   Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry.   1996 008;98(2):207-9
  • Becq F, Jensen TJ, Chang XB, Savoia A, Rommens JM, Tsui LC, Buchwald M, Riordan JR, Hanrahan JW   Phosphatase inhibitors activate normal and defective CFTR chloride channels.   1994 009 13;91(19):9160-4
  • Becq F, Verrier B, Chang XB, Riordan JR, Hanrahan JW   cAMP- and Ca2+-independent activation of cystic fibrosis transmembrane conductance regulator channels by phenylimidazothiazole drugs.   1996 007 5;271(27):16171-9
  • Brock DJ, Gilfillan A, Holloway S   The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies.   1998 001;53(1):47-9
  • Bucholtz GA, Ejercito VS, Burmester JK   The cystic fibrosis conductance regulator gene exon sequence is normal in a patient with edematous eosinophilic nasal polyps.   1999 005-006;13(3):221-3
  • Cabello GM, Moreira AF, Horovitz D, Correia P, Santa Rosa A, Llerena J, Greg J, Grody WW, Degrave WM, Fernandes O, Cabello PH   Cystic fibrosis: low frequency of DF508 mutation in 2 population samples from Rio de Janeiro, Brazil.   1999 004;71(2):189-96
  • Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X   Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.   1996 003;16(3):215-22
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  • Cashman SM, Patino A, Martinez A, Garcia-Delgado M, Miedzybrodzka Z, Schwarz M, Shrimpton A, Ferec C, Raguenes O, Macek M, et al   Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients.   1995 001-002;45(1):6-12
  • Cheadle J, Myring J, al-Jader L, Meredith L   Mutation analysis of 184 cystic fibrosis families in Wales.   1992 009;29(9):642-6
  • Chehab FF, Wall J   Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening.   1992 005;89(2):163-8
  • Chertkoff L, Visich A, Bienvenu T, Grenoville M, Segal E, Carniglia L, Kaplan JC, Barreiro C   Spectrum of CFTR mutations in Argentine cystic fibrosis patients.   1997 001;51(1):43-7
  • Claustres M, Desgeorges M, Kjellberg P, Tissot C, Demaille J   Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.   1992 012;90(4):464-6
  • Coutelle C, Bruckner R, Grade K, Behrens F, Gedschold J, Hein J, Szibor R, Bauer I, Brock J, Graupner I, et al   Prevalence of cystic fibrosis mutations in the East German population.   1992;1(2):109-12
  • Curtis A, Nelson R, Porteous M, Burn J, Bhattacharya SS   Association of less common cystic fibrosis mutations with a mild phenotype.   1991 001;28(1):34-7
  • Dabovic BB, Radojkovic D, Minic P, Savic J, Savic A   Frequency of the delta F508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients.   1992 003;88(6):699-700
  • Delaney SJ, Alton EW, Smith SN, Lunn DP, Farley R, Lovelock PK, Thomson SA, Hume DA, Lamb D, Porteous DJ, Dorin JR, Wainwright BJ   Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.   1996 003 1;15(5):955-63
  • Dequeker E, Cassiman JJ   Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment.   1998 003-004;6(2):165-75
  • Desmarquest P, Feldmann D, Tamalat A, Boule M, Fauroux B, Tournier G, Clement A   Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results.   2000 012;118(6):1591-7
  • Deufel T, Rabe H, Wieser T, Meitinger T, Rosenecker J, Bertele-Harms R, Harms K, Hadorn HB, Roscher AA   Mutation analysis in the diagnosis of cystic fibrosis.   1993 011;152(11):909-11
  • Duthie A, Doherty DG, Williams C, Scott-Jupp R, Warner JO, Tanner MS, Williamson R, Mowat AP   Genotype analysis for delta F508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease.   1992 004;15(4):660-4
  • Eiklid K, Tranebjaerg L, Eiken HG, Pedersen JC, Michalsen H, Fluge G, Schwartz M, Nilsen BR, Bolle R, Skyberg D, et al   Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients.   1993 007;44(1):12-4
  • Endreffy E, Laszlo , Szabo A, Roman F, Kurti K, Kalman M, Rasko I   Molecular genetic studies in monogenic and polygenic human diseases.   1997;48(1):121-8
  • Entzian P, Muller E, Boysen A, Artlich A, Schwinger E, Schlaak M   Frequency of common cystic fibrosis gene mutations in chronic bronchitis patients.   1995 005;55(3):263-6
  • Estivill X, Bancells C, Ramos C   Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.   1997;10(2):135-54
  • Fang P, Bouma S, Jou C, Gordon J, Beaudet AL   Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction.   1995;6(2):144-51
  • Feingold J, Guilloud-Bataille M   Genetic comparisons of patients with cystic fibrosis with or without meconium ileus. Clinical Centers of the French CF Registry.   1999;42(3):147-50
  • Ferrie RM, Schwarz MJ, Robertson NH, Vaudin S, Super M, Malone G, Little S   Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.   1992 008;51(2):251-62
  • Flores-Martinez SE, Dean M, Saiki RK, Gallegos-Arreola MP, Moran-Moguel MC, Sanchez-Corona J   Molecular analysis of northwestern Mexican patients with cystic fibrosis: screening of 10 known mutations. Mutations in brief no. 185. Online.   1998;12(3):217-8
  • Fortina P, Conant R, Monokian G, Dotti G, Parrella T, Hitchcock W, Kant J, Scanlin T, Rappaport E, Schwartz E, et al   Non-radioactive detection of the most common mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex allele-specific polymerase chain reaction.   1992 012;90(4):375-8
  • Fugger EF, Maddalena A, Schulman JD   Results of retroactive testing of human semen donors for cystic fibrosis and human immunodeficiency virus by polymerase chain reaction.   1993 009;8(9):1435-7
  • Fulmer SB, Schwiebert EM, Morales MM, Guggino WB, Cutting GR   Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents.   1995 007 18;92(15):6832-6
  • Gimbovskaia SD, Kalinin VN, Ivashchenko TE, Baranov VS   [Molecular-genetic analysis of certain mutations of the "cystic fibrosis gene" in Moldavia. Characteristics of molecular markers and their linkage with various mutations].   1994 012;30(12):1616-20
  • Grebe TA, Doane WW, Richter SF, Clericuzio C, Norman RA, Seltzer WK, Rhodes SN, Goldberg BE, Hernried LS, McClure M, et al   Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.   1992 010;51(4):736-40
  • Grebe TA, Seltzer WK, DeMarchi J, Silva DK, Doane WW, Gozal D, Richter SF, Bowman CM, Norman RA, Rhodes SN, et al   Genetic analysis of Hispanic individuals with cystic fibrosis.   1994 003;54(3):443-6
  • Greil I, Wagner K, Eber E, Zach M, Rosenkranz W   Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene.   1995;107(15):464-9
  • Guilloud-Bataille M, De Crozes D, Rault G, Degioanni A, Feingold J   Cystic fibrosis mutations: report from the French Registry. The Clinical Centers of the CF.   2000 003-004;50(2):142-5
  • Hamosh A, King TM, Rosenstein BJ, Corey M, Levison H, Durie P, Tsui LC, McIntosh I, Keston M, Brock DJ, et al   Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.   1992 008;51(2):245-50
  • Hoffman RA, Floyd ME, Whetsell LH, Kramer JC, Schaefer FV   Cystic fibrosis in the southern Midwest United States: molecular characterization of the common mutations.   1994 002;307(2):82-5
  • Howell LD, Borchardt R, Cohn JA   ATP hydrolysis by a CFTR domain: pharmacology and effects of G551D mutation.   2000 005 10;271(2):518-25
  • Hughes D, Wallace A, Taylor J, Tassabehji M, McMahon R, Hill A, Nevin N, Graham C   Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.   1996;8(3):229-35
  • Hughes DJ, Hill AJ, Macek M, Redmond AO, Nevin NC, Graham CA   Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.   1996;8(4):340-7
  • Illek B, Zhang L, Lewis NC, Moss RB, Dong JY, Fischer H   Defective function of the cystic fibrosis-causing missense mutation G551D is recovered by genistein.   1999 010;277(4 Pt 1):C833-9
  • Ismailov II, Awayda MS, Jovov B, Berdiev BK, Fuller CM, Dedman JR, Kaetzel M, Benos DJ   Regulation of epithelial sodium channels by the cystic fibrosis transmembrane conductance regulator.   1996 003 1;271(9):4725-32
  • Jalanko A, Kere J, Savilahti E, Schwartz M, Syvanen AC, Ranki M, Soderlund H   Screening for defined cystic fibrosis mutations by solid-phase minisequencing.   1992 001;38(1):39-43
  • Jovov B, Ismailov II, Berdiev BK, Fuller CM, Sorscher EJ, Dedman JR, Kaetzel MA, Benos DJ   Interaction between cystic fibrosis transmembrane conductance regulator and outwardly rectified chloride channels.   1995 012 8;270(49):29194-200
  • Jung U, Urner U, Grade K, Coutelle C   Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population.   1994 007;94(1):19-24
  • Kanavakis E, Tzetis M, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, Matsaniotis N, Kattamis C   Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation.   1995 009;96(3):364-6
  • Kingdom TT, Lee KC, FitzSimmons SC, Cropp GJ   Clinical characteristics and genotype analysis of patients with cystic fibrosis and nasal polyposis requiring surgery.   1996 011;122(11):1209-13
  • Kostuch M, Semczuk A, Szarewicz-Adamczyk W, Gasowska-Giszczak U, Wojcierowski J, Kulczycki L   Detection of CFTR gene mutations in patients suffering from chronic bronchitis.   2000 001-002;31(1):97-100
  • Kravchenko SA, Livshits LA   [An analysis of mutations in the 7th, 10th and 11th exons and of the polymorphism of the 4 nucleotide tandem repeats from the 3' end of the 6th intron of the CFTR gene in families from Ukraine with a high risk of mucoviscidosis].   1993 007-008;27(4):72-7
  • Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P   Genetic determination of exocrine pancreatic function in cystic fibrosis.   1992 006;50(6):1178-84
  • Kuchynkova Z, Macek M, Holcat M, Macek M   [Detection of the G551D mutation in a patient with nasal polyps].   1995 004 5;134(7):212-3
  • Liechti-Gallati S, Malik N, Alkan M, Maechler M, Morris M, Thonney F, Sennhauser F, Moser H   Association between haplotypes and specific mutations in Swiss cystic fibrosis families.   1991 010;30(4):304-8
  • Lindner M, Wolf A, Moh B, Steinbach P, Kleihauer E, Bartram CR, Kulozik AE   The spectrum of CFTR mutations in south-west German cystic fibrosis patients.   1992 011;90(3):267-9
  • Livshits LA, Kravchenko SA   Cystic Fibrosis in Ukraine: age, origin and tracing of the delta F508 mutation.   1996 012;10(3):219-27
  • Livshyts' LA, Gryshko VI, Kravchenko SA   [Possibilities and prospects of the use of DNA analysis in the diagnosis and prevention of inherited disease in the Ukraine].   1992 007-008;26(4):35-42
  • Logan J, Hiestand D, Daram P, Huang Z, Muccio DD, Hartman J, Haley B, Cook WJ, Sorscher EJ   Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding.   1994 007;94(1):228-36
  • Lucotte G, Hazout S   Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles.   1995 008;67(4):562-76
  • Marchand E, Verellen-Dumoulin C, Mairesse M, Delaunois L, Brancaleone P, Rahier JF, Vandenplas O   Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and 5T Allele in Patients With Allergic Bronchopulmonary Aspergillosis.   2001 003;119(3):762-767
  • Mastella G, Rainisio M, Harms HK, Hodson ME, Koch C, Navarro J, Strandvik B, McKenzie SG   Allergic bronchopulmonary aspergillosis in cystic fibrosis. A European epidemiological study. Epidemiologic Registry of Cystic Fibrosis.   2000 009;16(3):464-71
  • McNicholas CM, Nason MW, Guggino WB, Schwiebert EM, Hebert SC, Giebisch G, Egan ME   A functional CFTR-NBF1 is required for ROMK2-CFTR interaction.   1997 011;273(5 Pt 2):F843-8
  • Mickle JE, Cutting GR   Genotype-phenotype relationships in cystic fibrosis.   2000 005;84(3):597-607
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  • Nemeti M, Johnson JP, Papp Z, Louie E   The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients.   1992 005;89(2):245-6
  • Ng IS, Pace R, Richard MV, Kobayashi K, Kerem B, Tsui LC, Beaudet AL   Methods for analysis of multiple cystic fibrosis mutations.   1991 009;87(5):613-7
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  • Parad RB   Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.   1996 008;33(8):711-3
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  • Reiss J, Ellermeyer U, Schloesser M, Fuhrmann W, Drews D, Posselt HG   Two cystic fibrosis patients with the genotype G542X/G551D.   1993 003;91(1):78-9
  • Sangiuolo F, Maceratesi P, Mesoraca A, Botta A, Cavicchini A, Novelli G, Dallapiccola B   Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay.   1995;25(3):142-5
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  • Sepulveda W, Leung KY, Robertson ME, Kay E, Mayall ES, Fisk NM   Prevalence of cystic fibrosis mutations in pregnancies with fetal echogenic bowel.   1996 001;87(1):103-6
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  • Smith SN, Delaney SJ, Dorin JR, Farley R, Geddes DM, Porteous DJ, Wainwright BJ, Alton EW   Effect of IBMX and alkaline phosphatase inhibitors on Cl- secretion in G551D cystic fibrosis mutant mice.   1998 002;274(2 Pt 1):C492-9
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  • Taranenko NI, Matteson KJ, Chung CN, Zhu YF, Chang LY, Allman SL, Haff L, Martin SA, Chen CH   Laser desorption mass spectrometry for point mutation detection.   1996 010;13(4):87-94
  • Thomas GR, Costelloe EA, Lunn DP, Stacey KJ, Delaney SJ, Passey R, McGlinn EC, McMorran BJ, Ahadizadeh A, Geczy CL, Wainwright BJ, Hume DA   G551D cystic fibrosis mice exhibit abnormal regulation of inflammation in lungs and macrophages.   2000 004 1;164(7):3870-7
  • Traystman MD, Schulte N, Colombo JL, Sammut PH, Reilly P, Patel C, Acquazzino D, Simanek B, Anderson R, Kimberling WJ, et al   Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center.   1993;2(1):7-15
  • Traystman MD, Schulte NA, MacDonald M, Anderson JR, Sanger WG   Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska Genetic Semen Bank.   1994;4(4):271-5
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  • Wunderlich P, Stopsack M, Paul KD, Rosen-Wolff A   [Mucoviscidosis screening of newborn infants in the Dresden district. Results from 1 June 1996 to 31 March 2000].   2000 011 10;125(45):1356-60
  • Yang Y, Devor DC, Engelhardt JF, Ernst SA, Strong TV, Collins FS, Cohn JA, Frizzell RA, Wilson JM   Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.   1993 008;2(8):1253-61
  • Yang Y, Engelhardt JF, Wilson JM   Ultrastructural localization of variant forms of cystic fibrosis transmembrane conductance regulator in human bronchial epithelial of xenografts.   1994 007;11(1):7-15
  • Yilmaz E, Erdem H, Ozguc M, Coskun T, Ozcelik U, Gocmen A, Ozalp I   Study of 12 mutations in Turkish cystic fibrosis patients.   1995 005-006;45(3):175-7
  • Zhang Y, Doranz B, Yankaskas JR, Engelhardt JF   Genotypic analysis of respiratory mucous sulfation defects in cystic fibrosis.   1995 012;96(6):2997-3004
  • al-Jader LN, Meredith AL, Ryley HC, Cheadle JP, Maguire S, Owen G, Goodchild MC, Harper PS   Severity of chest disease in cystic fibrosis patients in relation to their genotypes.   1992 012;29(12):883-7

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The Database was last updated at Apr 25, 2011