Mutation Details for c.1519_1521delATC

cDNA Name c.1519_1521delATC 
Protein Name p.Ile507del 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name [delta]I507 
Other Details  
Contributors Kerem et al. Schwarz M, Super M   1989-12-05
Institute Hospital for Sick Children, Toronto, Canada Royal Manchester Children's Hospital, Manchester, UK 
Phenotype Information CFTR2
Reference Kerem et al. 1990; Schwarz 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.

  • Axton RA, Brock DJ   A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations.   1995;5(3):260-2
  • 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
  • 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
  • Champigny G, Imler JL, Puchelle E, Dalemans W, Gribkoff V, Hinnrasky J, Dott K, Barbry P, Pavirani A, Lazdunski M   A change in gating mode leading to increased intrinsic Cl- channel activity compensates for defective processing in a cystic fibrosis mutant corresponding to a mild form of the disease.   1995 006 1;14(11):2417-23
  • 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
  • Cuppens H, Cassiman JJ   A quality control study of CFTR mutation screening in 40 different European laboratories. The European Concerted Action on Cystic Fibrosis.   1995;3(4):235-45
  • 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
  • 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
  • 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
  • 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
  • Maldonado-Rodriguez R, Espinosa-Lara M, Calixto-Suarez A, Beattie WG, Beattie KL   Hybridization of glass-tethered oligonucleotide probes to target strands preannealed with labeled auxiliary oligonucleotides.   1999 002;11(1):1-12
  • Martinelli RA, Arruda JC, Dwivedi P   Chemiluminescent hybridization-ligation assays for delta F508 and delta I507 cystic fibrosis mutations.   1996 001;42(1):14-8
  • Mittre H, Leymarie P, Leporrier N   High incidence of delta I507 mutation of the CFTR gene in a limited area of the north west of France.   1995 007;32(7):577
  • Morral N, Nunes V, Casals T, Chillon M, Gimenez J, Bertranpetit J, Estivill X   Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.   1993 007;2(7):1015-22
  • 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
  • Orozco L, Friedman K, Chavez M, Lezana JL, Villarreal MT, Carnevale A   Identification of the I507 deletion by site-directed mutagenesis.   1994 006 1;51(2):137-9
  • Schwarz M, Summers C, Heptinstall L, Newton C, Markham A, Super M   A deletion mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) locus: Delta I507.   1991;290:393-8
  • Schwarz MJ, Super M, Wallis C, Beighton P, Newton C, Heptinstall LE, Summers C, Markham A, Hambleton G, Webb KW, et al   Delta F508 testing of the DNA bank of the Royal Manchester Children's Hospital.   1990 009;85(4):428-30
  • Serre JL, Taillandier A, Mornet E, Simon-Bouy B, Boue J, Boue A   Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO reverse dot blot.   1991 012;11(4):1149-51
  • 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
  • Simon-Bouy B, Mornet E, Serre JL, Taillandier A, Boue J, Boue A   Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients.   1991 009;40(3):218-24
  • Tuerlings JH, Mol B, Kremer JA, Looman M, Meuleman EJ, te Meerman GJ, Buys CH, Merkus HM, Scheffer H   Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection.   1998 005;69(5):899-903
  • Vazquez C, Antinolo G, Casals T, Dapena J, Elorz J, Seculi JL, Sirvent J, Cabanas R, Soler C, Estivill X   Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.   1996 010;33(10):820-2
  • 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