Mutation Details for c.3484C>T

cDNA Name c.3484C>T 
Protein Name p.Arg1162X 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name R1162X 
Other Details This mutation could easily be detected by restriction enzyme analysis it creates a new resriction site for Alu I or an even better detectable DdeI site. After a large screening in some South European population, the R1162X mutation accounts for about 20% of non-[delta]F508 chromosomes in North Eastern Italy. 
Contributors Gasparini P, Bonizzato A, Dognini M, Savoia A, Pignatti P   1991-05-31
Institute Istituto di Scienze Biologiche Verona, Italy 
Phenotype Information CFTR2
Reference Gasparini et al. 1991 

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.

  • 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
  • Borrego S, Casals T, Dapena J, Fernandez E, Gimenez J, Cabeza JC, Sanchez J, Antinolo G   Molecular and clinical analyses of cystic fibrosis in the south of Spain.   1994 010;46(4):287-90
  • 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
  • Castellani C, Bonizzato A, Cabrini G, Mastella G   Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity.   1997 005;86(5):497-502
  • 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
  • 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
  • Delmarco A, Pradal U, Cabrini G, Bonizzato A, Mastella G   Nasal potential difference in cystic fibrosis patients presenting borderline sweat test.   1997 005;10(5):1145-9
  • 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
  • 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
  • Gasparini P, Borgo G, Mastella G, Bonizzato A, Dognini M, Pignatti PF   Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.   1992 008;29(8):558-62
  • 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
  • Kessler D, Moehlenkamp C, Kaplan G   Determination of cystic fibrosis carrier frequency for Zuni native Americans of New Mexico.   1996 002;49(2):95-7
  • 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
  • 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
  • Mercier B, Raguenes O, Estivill X, Morral N, Kaplan GC, McClure M, Grebe TA, Kessler D, Pignatti PF, Marigo C, et al   Complete detection of mutations in cystic fibrosis patients of Native American origin.   1994 012;94(6):629-32
  • Morral N, Dork T, Llevadot R, Dziadek V, Mercier B, Ferec C, Costes B, Girodon E, Zielenski J, Tsui LC, Tummler B, Estivill X   Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.   1996;8(2):149-59
  • 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
  • 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
  • Orou A, Fechner B, Utermann G, Menzel HJ   Allele-specific competitive blocker PCR: a one-step method with applicability to pool screening.   1995;6(2):163-9
  • 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
  • Rendine S, Calafell F, Cappello N, Gagliardini R, Caramia G, Rigillo N, Silvetti M, Zanda M, Miano A, Battistini F, Marianelli L, Taccetti G, Diana MC, Romano L, Romano C, Giunta A, Padoan R, Pianaroli A, Raia V, De Ritis G, Battistini A, Grzincich G, Japichino L, Pardo F, Piazza A, et al   Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution.   1997 009;61 ( Pt 5):411-24
  • 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
  • Stuhrmann M, Dork T, Fruhwirth M, Golla A, Skawran B, Antonin W, Ebhardt M, Loos A, Ellemunter H, Schmidtke J   Detection of 100% of the CFTR mutations in 63 CF families from Tyrol.   1997 010;52(4):240-6
  • 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
  • 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




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The Database was last updated at Apr 25, 2011