Mutation Details for c.3947G>A

cDNA Name c.3947G>A 
Protein Name p.Trp1316X 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name W1316X 
Other Details This mutation was found in exon 21 on one CF chromosome from an American black patient. The mutation can be detected by hybridization of allele specific oligonucleotides to DNA amplified from genomic DNA using primers 21i-5 and 21i-3. The mutation was not discovered on 35 American Black CF chromosomes (9 with the [delta]F508 mutation), 20 Caucasian CF chromosomes (6 with the [delta]F508 mutation) nor 4 normal American Black chromosomes. 
Contributors Cutting GR   1990-03-01
Institute Johns Hopkins Hospital Baltimore, MD, USA 
Submitted Phenotype Details  
Reference Cutting et al. 1990b 

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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.

  • 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
  • Rich DP, Gregory RJ, Cheng SH, Smith AE, Welsh MJ   Effect of deletion mutations on the function of CFTR chloride channels.   1993;1(3):221-32
  • 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
  • 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

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The Database was last updated at Apr 25, 2011