Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.3846G>A

cDNA Name	c.3846G>A
Protein Name	p.Trp1282X
Exon or Intron	exon 23
Legacy Exon or Intron	exon 20
Legacy Name	W1282X
Other Details	The stop mutation has been discovered in a French individual with a severe form of the disease, originating from Brittany and having the [delta]F508 defect on the other chromosome. This substitution has been found once among 48 CF chromosomes tested.
Contributors	Goossens M, Vidaud M 1990-02-22
Institute	Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France
Phenotype Information	CFTR2
Reference	Vidaud et al. 1990

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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.

Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium. 1993 010 28;329(18):1308-13

Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. 1992 011;51(5):951-6

Abeliovich D, Quint A, Weinberg N, Verchezon G, Lerer I, Ekstein J, Rubinstein E Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency. 1996;4(6):338-41

Amosenko FA, Trubnikova IS, Zakhar'ev VM, Bannikov VM, Sazonova MA, Petrova NV, Kapranov NI, Kaplinin VN [TUB9 polymorphism in the CFTR gene of cystic fibrosis patients, carriers, and healthy donors from the Moscow region. SSCP and restriction analyses]. 1997 002;33(2):257-61

Arduino C, Ferrone M, Brusco A, Garnerone S, Fontana D, Rolle L, Carbonara AO Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene. 1998 003;53(3):202-4

Augarten A, Hacham S, Kerem E, Sheva Kerem B, Szeinberg A, Laufer J, Doolman R, Altshuler R, Blau H, Bentur L, et al The significance of sweat Cl/Na ratio in patients with borderline sweat test. 1995 012;20(6):369-71

Augarten A, Katznelson D, Dubenbaum L, Doolman R, Sela BA, Lusky A, Szeinberg A, Kerem BS, Paret G, Gazit E, Sack J, Yahav Y Serum lipase levels pre and post Lundh meal: evaluation of exocrine pancreatic status in cystic fibrosis. 1998;28(4):226-9

Augarten A, Kerem BS, Yahav Y, Noiman S, Rivlin Y, Tal A, Blau H, Ben-Tur L, Szeinberg A, Kerem E, et al Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation. 1993 007 3;342(8862):25-6

Augarten A, Shmilovich H, Doolman R, Aviram M, Akons H, Ben Tur L, Blau H, Kerem E, Rivlin J, Sela BA, Szeinberg A, Yahav Y Serum lipase levels as a diagnostic marker in cystic fibrosis patients with normal or borderline sweat tests. 2000 010;30(4):320-3

Avner R, Laufer N, Safran A, Kerem BS, Friedmann A, Mitrani-Rosenbaum S Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and delta F508 mutations. 1994 009;9(9):1676-80

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

Bienvenu T, Beldjord C, Chelly J, Fonknechten N, Hubert D, Dusser D, Kaplan JC Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients. 1996;4(3):127-34

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

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, 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

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

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

Cotellessa M, Minicucci L, Diana MC, Prigione F, Di Febbraro L, Gagliardini R, Manca A, Battistini F, Taccetti G, Magazzu G, Padoan R, Pizzamiglio G, Raia V, Iapichino L, Cardella F, Grinzich G, Lucidi V, Tuccio G, Bignamini E, Salvatore D, Lorini R Phenotype/genotype correlation and cystic fibrosis related diabetes mellitus (Italian Multicenter Study). 2000 009-010;13(8):1087-93

Desgeorges M, Megarbane A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. 1997 008;100(2):279-83

DiMango E, Ratner AJ, Bryan R, Tabibi S, Prince A Activation of NF-kappaB by adherent Pseudomonas aeruginosa in normal and cystic fibrosis respiratory epithelial cells. 1998 006 1;101(11):2598-605

Drury KC, Liu MC, Zheng W, Kipersztok S, Williams RS Simultaneous single-cell detection of two mutations for cystic fibrosis. 2000 010;17(9):534-9

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

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

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

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

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

Hamosh A, Rosenstein BJ, Cutting GR CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells. 1992 010;1(7):542-4

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

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

Kalman YM, Kerem E, Darvasi A, DeMarchi J, Kerem B Difference in frequencies of the cystic fibrosis alleles, delta F508 and W1282X, between carriers and patients. 1994;2(2):77-82

Kambouris M, Banjar H, Moggari I, Nazer H, Al-Hamed M, Meyer BF Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations. 2000 005;159(5):303-9

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

Kerem B, Chiba-Falek O, Kerem E Cystic fibrosis in Jews: frequency and mutation distribution. 1997;1(1):35-9

Kerem E, Nissim-Rafinia M, Argaman Z, Augarten A, Bentur L, Klar A, Yahav Y, Szeinberg A, Hiba O, Branski D, Corey M, Kerem B A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype. 1997 009;100(3):E5

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

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

Laufer-Cahana A, Lerer I, Sagi M, Rachmilewitz-Minei T, Zamir C, Rivlin JR, Abeliovich D Cystic fibrosis mutations in Israeli Arab patients. 1999 012;14(6):543

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):762-7

Mickle JE, Cutting GR Genotype-phenotype relationships in cystic fibrosis. 2000 005;84(3):597-607

Mitchell J, Scriver CR, Clow CL, Kaplan F What young people think and do when the option for cystic fibrosis carrier testing is available. 1993 007;30(7):538-42

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

Mussaffi H, Greif J, Kornreich L, Ashkenazi S, Levy Y, Schonfeld T, Blau H Severe allergic bronchopulmonary aspergillosis in an infant with cystic fibrosis and her asthmatic father. 2000 002;29(2):155-9

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

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

Pescatore P, Marteau P, Lemiere E, Xerri B, Denamur E, Elion J, Matuchansky C, Rambaud JC [Mucoviscidosis discovered after the age of 25 years. Review and follow-up of cases of the literature]. 1994;18(3):195-9

Petrova NV, Kapranov NI, Ginter EK [Detection of frequent mutations of the CFTR gene in cystic fibrosis patients from Central Russia]. 1997 001;33(1):106-9

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

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

Rubenstein RC, Egan ME, Zeitlin PL In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR. 1997 011 15;100(10):2457-65

Rubenstein RC, Zeitlin PL Sodium 4-phenylbutyrate downregulates Hsc70: implications for intracellular trafficking of DeltaF508-CFTR. 2000 002;278(2):C259-67

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

Sereth H, Shoshani T, Bashan N, Kerem BS Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis. 1993 010 1;92(3):289-95

Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, et al Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. 1992 001;50(1):222-8

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

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

Vouk K, Strmecki L, Liovic M, Kopriva S, Micetic-Turk D, Komel R Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra. 2000;439(3 Suppl):R63-5

Wang YL, Chen KL, Joshi I, Kotloff RM, Leonard DG, Wilson RB A Novel Missense Mutation, R1283S, of the Cystic Fibrosis Transmembrane Conductance Regulator Gene in a 47-Year-Old African-American Patient. 1997 009;2(3):205-208

Will K, Dork T, Stuhrmann M, von der Hardt H, Ellemunter H, Tummler B, Schmidtke J Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients. 1995;5(3):210-20

Zamostiano R, Nolman S, Yahav J, Schonberg A, Kerem BS, Gazit E [Screening for carriers of cystic fibrosis mutations in Ashkenazi volunteers]. 1993 002 15;124(4):202-5, 247

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The Database was last updated at Apr 25, 2011