Mutation Details for c.1000C>T

cDNA Name c.1000C>T 
Protein Name p.Arg334Trp 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name R334W 
Other Details This mutation has been found in two Spanish CF chromosomes. One of the patients has the [delta]F508 mutation in the other chromosome and the other patient does not. We have not found this mutation on 30 normal chromosomes with the same haplotype, and in 88 CF chromosomes without the [delta]F508, and in 24 with the [delta]F508. The mutation destroys a MapI site and is easily identified by agarose gel electrophoresis after PCR with intron primers. 
Contributors Estivill X, Chillon M, Nunes V, Morral N   1990-03-16
Institute Hospital de la Santa Creu I Sant Pau Barcleona, Spain 
Phenotype Information CFTR2
Reference Estivill et al. 1991 

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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.

  • Adato A, Weston MD, Berry A, Kimberling WJ, Bonne-Tamir A   Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.   2000 004;15(4):388
  • Antinolo G, Borrego S, Gili M, Dapena J, Alfageme I, Reina F   Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W.   1997 002;34(2):89-91
  • 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
  • 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
  • Claustres M, Desgeorges M, Moine P, Morral N, Estivill X   CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.   1996 009;98(3):336-44
  • Duarte A, Amaral M, Barreto C, Pacheco P, Lavinha J   Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient.   1996;8(2):134-9
  • 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
  • Estivill X, Ortigosa L, Perez-Frias J, Dapena J, Ferrer J, Pena L, Pena L, Llevadot R, Gimenez J, Nunes V, et al   Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.   1995 003;95(3):331-6
  • Federici S, Iron A, Reboul MP, Desgeorges M, Claustres M, Bremont F, Bieth E     2001 002;8(2):150-7
  • Ferec C, Verlingue C, Guillermit H, Quere I, Raguenes O, Feigelson J, Audrezet MP, Moullier P, Mercier B   Genotype analysis of adult cystic fibrosis patients.   1993 010;2(10):1557-60
  • 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
  • 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
  • Jiang Q, Mak D, Devidas S, Schwiebert EM, Bragin A, Zhang Y, Skach WR, Guggino WB, Foskett JK, Engelhardt JF   Cystic fibrosis transmembrane conductance regulator-associated ATP release is controlled by a chloride sensor.   1998 011 2;143(3):645-57
  • 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
  • Livshits LA, Kravchenko SA   Cystic Fibrosis in Ukraine: age, origin and tracing of the delta F508 mutation.   1996 012;10(3):219-27
  • Morral N, Llevadot R, Casals T, Gasparini P, Macek M, Dork T, Estivill X   Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.   1994 011;55(5):890-8
  • 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
  • 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
  • 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
  • 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
  • Sheppard DN, Rich DP, Ostedgaard LS, Gregory RJ, Smith AE, Welsh MJ   Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.   1993 003 11;362(6416):160-4
  • 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
  • Yue H, Devidas S, Guggino WB   The two halves of CFTR form a dual-pore ion channel.   2000 004 7;275(14):10030-4

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The Database was last updated at Apr 25, 2011