Mutation Details for c.1657C>T

cDNA Name c.1657C>T 
Protein Name p.Arg553X 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name R553X 
Other Details This mutation occurs ar a CG dinucleotide which has previuosly been described as a hotspot for mutations. The stop mutation has been discovered in 2 Black CF chromosomes so far. 
Contributors Cutting GR   1990-01-13
Institute Johns Hopkins Hospital Toronto, ON, CAN 
Phenotype Information CFTR2
Reference Cutting et al. 1990a 

To check if there are any papers published about this mutation/variant on PubMed, please click here.
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.

  •   Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium.   1993 010 28;329(18):1308-13
  • 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
  • Axton RA, Brock DJ   A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations.   1995;5(3):260-2
  • Bal J, Stuhrmann M, Schloesser M, Schmidtke J, Reiss J   A cystic fibrosis patient homozygous for the nonsense mutation R553X.   1991 010;28(10):715-7
  • Banjar H, Kambouris M, Meyer BF, al-Mehaidib A, Mogarri I   Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia.   1999 003;19(1):69-73
  • 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
  • Bedwell DM, Kaenjak A, Benos DJ, Bebok Z, Bubien JK, Hong J, Tousson A, Clancy JP, Sorscher EJ   Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line.   1997 011;3(11):1280-4
  • Bernardino AL, Ferri A, Passos-Bueno MR, Kim CE, Nakaie CM, Gomes CE, Damaceno N, Zatz M   Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.   2000;4(1):69-74
  • Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, Scarpa M, Goossens M, Salvatore F   Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations.   1999 007;45(7):957-62
  • Castaldo G, Fuccio A, Salvatore D, Raia V, Santostasi T, Leonardi S, Lizzi N, Rosa ML, Rigillo N, Salvatore F   Liver expression in cystic fibrosis could be modulated by genetic factors different from the cystic fibrosis transmembrane regulator genotype.   2001 002 1;98(4):294-297
  • Castaldo G, Rippa E, Raia V, Salvatore D, Massa C, de Ritis G, Salvatore F   Clinical features of cystic fibrosis patients with rare genotypes.   1996 001;33(1):73-6
  • Castaldo G, Rippa E, Sebastio G, Raia V, Ercolini P, de Ritis G, Salvatore D, Salvatore F   Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.   1996 006;33(6):475-9
  • Cheadle J, Myring J, al-Jader L, Meredith L   Mutation analysis of 184 cystic fibrosis families in Wales.   1992 009;29(9):642-6
  • Cheadle J, al-Jader L, Goodchild M, Meredith AL   Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.   1992 008;29(8):597
  • 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
  • Chevalier-Porst F, Bonardot AM, Gilly R, Chazalette JP, Mathieu M, Bozon D   Mutation analysis in 600 French cystic fibrosis patients.   1994 007;31(7):541-4
  • Clancy JP, Hong JS, Bebok Z, King SA, Demolombe S, Bedwell DM, Sorscher EJ   Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain 1 (NBD-1) and CFTR truncated within NBD-1 target to the epithelial plasma membrane and increase anion permeability.   1998 010 27;37(43):15222-30
  • Colombo C, Apostolo MG, Ferrari M, Seia M, Genoni S, Giunta A, Sereni LP   Analysis of risk factors for the development of liver disease associated with cystic fibrosis.   1994 003;124(3):393-9
  • 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
  • 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
  • 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
  • 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
  • Dork T, Neumann T, Wulbrand U, Wulf B, Kalin N, Maass G, Krawczak M, Guillermit H, Ferec C, Horn G, et al   Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.   1992 002;88(4):417-25
  • Dork T, Wulbrand U, Richter T, Neumann T, Wolfes H, Wulf B, Maass G, Tummler B   Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.   1991 008;87(4):441-6
  • 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
  • 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
  • Friedman KJ, Heim RA, Knowles MR, Silverman LM   Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease.   1997;10(2):108-15
  • 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
  • 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
  • Goldman A, Jenkins T, Ramsay M   Analysis of 40 known cystic fibrosis mutations in South African patients.   1994 012;46(6):398-400
  • 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, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR   Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.   1991 012;88(6):1880-5
  • Heinonen P, Iitia A, Torresani T, Lovgren T   Simple triple-label detection of seven cystic fibrosis mutations by time-resolved fluorometry.   1997 007;43(7):1142-50
  • 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
  • Hull J, Shackleton S, Harris A   The stop mutation R553X in the CFTR gene results in exon skipping.   1994 001 15;19(2):362-4
  • 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
  • Kadasi L, Polakova H, Zatkova A, Kayserova H   Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.   1997 004;11(1):51-6
  • Kadasi L, Polakova H, Zatkova A, Kayserova H, Hruskovic I   [The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia].   1998 001;99(1):33-6
  • 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
  • Kraemer R, Aebi C, Casaulta Aebischer C, Gallati S   Early detection of lung disease and its association with the nutritional status, genetic background and life events in patients with cystic fibrosis.   2000;67(5):477-90
  • Kraemer R, Birrer P, Liechti-Gallati S   Genotype-phenotype association in infants with cystic fibrosis at the time of diagnosis.   1998 012;44(6):920-6
  • 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
  • Liechti-Gallati S, Bonsall I, Malik N, Schneider V, Kraemer LG, Ruedeberg A, Moser H, Kraemer R   Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations.   1992 008;32(2):175-8
  • 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
  • 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
  • Muller F, Dommergues M, Simon-Bouy B, Ferec C, Oury JF, Aubry MC, Bessis R, Vuillard E, Denamur E, Bienvenu T, Serre JL   Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.   1998 008;35(8):657-60
  • Nemeth K, Holics K, Ujhelyi R, Varadi A, Fekete G   [Analysis of five mutations of cystic fibrosis occurring in the Hungarian population].   1996 004 28;137(17):899-903
  • 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
  • Nunes V, Gasparini P, Novelli G, Gaona A, Bonizzato A, Sangiuolo F, Balassopoulou A, Gimenez FJ, Dognini M, Ravnik-Glavac M, et al   Analysis of 14 cystic fibrosis mutations in five south European populations.   1991 010;87(6):737-8
  • Ober C, Lester LA, Mott C, Billstrand C, Lemke A, van der Ven K, Marcus S, Kraut J, Lloyd-Still J, Booth C   Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families.   1992 012;51(6):1344-8
  • Patrizio P, Asch RH, Handelin B, Silber SJ   Aetiology of congenital absence of vas deferens: genetic study of three generations.   1993 002;8(2):215-20
  • Petrova NV, Ginter EK, Kapranov NI, El'chinova GI   [Portion of certain cystic fibrosis gene mutations and linkage dysequilibrium between the CFTR-gene locus and two DNA marker loci in Russian populations].   1994 007;30(7):974-7
  • Phillips OP, Bishop C, Woods D, Elias S   Cystic fibrosis mutations among African Americans in the southeastern United States.   1995 006;87(6):433-5
  • Phillips OP, Elias S, Woods D, Hanissian AS, Schoumacher RA, Bishop C   Cystic fibrosis mutations in white and black Americans: an approach to identification of unknown mutations with implications for cystic fibrosis screening.   1993 004;168(4):1076-82
  • Picci L, Anglani F, Scarpa M, Zacchello F   Screening for cystic fibrosis gene mutations by multiplex DNA amplification.   1992 003;88(5):552-6
  • Potapova OYu , Voronina OV, Gaitskhoki VS, Bogacheva EV, Uembitskaya TE, Kuprina EA, Kapranov NI, Berlin YuA , Schwartz EI   Identification of the linkage of mutations causing cystic fibrosis to different alleles of a tetranucleotide repeat in intron 6a of the CFTR gene.   1994 004;51(2):185-7
  • Rabbi-Bortolini E, Bernardino AL, Lopes AL, Ferri AS, Passos-Bueno MR, Zatz M   Sweat electrolyte and cystic fibrosis mutation analysis allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosis.   1998 004 1;76(4):288-90
  • Ranieri E, Lewis BD, Gerace RL, Ryall RG, Morris CP, Nelson PV, Carey WF, Robertson EF   Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience.   1994 006 4;308(6942):1469-72
  • Raskin S, Phillips JA, Kaplan G, McClure M, Vnencak-Jones C   Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots.   1992 011;2(2):154-6
  • Raskin S, Phillips JA, Kaplan G, McClure M, Vnencak-Jones C, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R, Reis F, Rosario NA, Ludwig N, Pereira L, Faucz F, Gabardo J, Culpi L   Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil.   1999 002;71(1):111-21
  • Ravnik-Glavac M, Gasparini P, Peterlin B, Strukelj M, Glavac D, Canki-Klain N, Pignatti PF, Komel R   Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population.   1992;35(2):85-8
  • Reiss J, Cooper DN, Bal J, Slomski R, Cutting GR, Krawczak M   Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.   1991 008;87(4):457-61
  • Rolfini R, Cabrini G   Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.   1993 012;92(6):2683-7
  • Schwarz MJ, Malone GM, Haworth A, Cheadle JP, Meredith AL, Gardner A, Sawyer IH, Connarty M, Dennis N, Seller A, et al   Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories.   1995;6(4):326-33
  • Scobie G, Woodroffe B, Fishel S, Kalsheker N   Identification of the five most common cystic fibrosis mutations in single cells using a rapid and specific differential amplification system.   1996 003;2(3):203-7
  • Semczuk M, Kostuch M, Krzyzanowski A, Kwasniewska A, Wojcierowski J   [The detection of CFTR gene mutation in patients with azoospermia].   1998 006;69(6):506-11
  • Shoshani T, Kerem E, Szeinberg A, Augarten A, Yahav Y, Cohen D, Rivlin J, Tal A, Kerem B   Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.   1994 004;93(4):1502-7
  • Shrimpton AE, McIntosh I, Brock DJ   The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.   1991 005;28(5):317-21
  • Spence WC, Paulus-Thomas J, Orenstein DM, Naylor EW   Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity.   1993 004;49(2):200-11
  • 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
  • Tummler B, Storrs T, Dziadek V, Dork T, Meitinger T, Golla A, Bertele-Harms RM, Harms HK, Schroder E, Claass A, Rutjes J, Schneppenheim R, Bauer I, Breuel K, Stuhrmann M, Schmidtke J, Lindner M, Eigel A, Horst J, Kaiser R, Lentze MJ, Schmidt K, von der Hardt H, Estivill X   Geographic distribution and origin of CFTR mutations in Germany.   1996 006;97(6):727-31
  • Walker LC, Venglarik CJ, Aubin G, Weatherly MR, McCarty NA, Lesnick B, Ruiz F, Clancy JP, Sorscher EJ   Relationship between airway ion transport and a mild pulmonary disease mutation in CFTR.   1997 005;155(5):1684-9
  • Will K, Reiss J, Dean M, Schlosser M, Slomski R, Schmidtke J, Stuhrmann M   CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.   1993 010;30(10):833-7
  • 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
  • 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
  • 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