Mutation Details for c.1646G>A

cDNA Name c.1646G>A 
Protein Name p.Ser549Asn 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name S549N 
Other Details  
Contributors    1990-01-01
Phenotype Information CFTR2
Reference Cutting et al. 1990a 

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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.

  • Chastre E, Di Gioia Y, Barbry P, Simon-Bouy B, Mornet E, Fanen P, Champigny G, Emami S, Gespach C   Functional insertion of the SV40 large T oncogene in cystic fibrosis intestinal epithelium. Characterization of CFI-3 cells.   1991 011 5;266(31):21239-46
  • 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
  • Curtis A, Richardson RJ, Boohene J, Jackson A, Nelson R, Bhattacharya SS   Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.   1993 002;30(2):164-6
  • Della Gaspera B, Weinman S, Huber C, Lemnaouar M, Paul A, Picard J, Gruenert DC   Overexpression of annexin V in cystic fibrosis epithelial cells from fetal trachea.   1995 008;219(2):379-83
  • 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
  • Goldman A, Jenkins T, Ramsay M   Analysis of 40 known cystic fibrosis mutations in South African patients.   1994 012;46(6):398-400
  • 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
  • Lemnaouar M, Chastre E, Paul A, Mergey M, Veissiere D, Cherqui G, Barbry P, Simon-Bouy B, Fanen P, Gespach C, et al   Oncogene-mediated propagation of tracheal epithelial cells from two cystic fibrosis fetuses with different mutations. Characterization of CFT-1 and CFT-2 cells in culture.   1993 003;23(3):151-60
  • 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
  • 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
  • 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
  • Picard J, Lemnaouar M, Paul A   [Cellular expression of CFTR in cystic fibrosis: defective cyclic AMP-dependent regulation of glycoconjugate secretion in cystic fibrosis fetal tracheal epithelial cells transfected by SV40 large T oncogene].   1993 003;177(3):383-93; discussion 393-4
  • Picci L, Anglani F, Scarpa M, Zacchello F   Screening for cystic fibrosis gene mutations by multiplex DNA amplification.   1992 003;88(5):552-6
  • 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
  • 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

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The Database was last updated at Apr 25, 2011