Mutation Details for c.220C>T

cDNA Name c.220C>T 
Protein Name p.Arg74Trp 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name R74W 
Other Details This mutation was found in one CF patient from Southern France. This change does not modify a restriction site; it was detected using the SSCP technique. 140 other chromosomes (normal or CF) have been tested for SSCP's in exon 3; all were negative for R74W. 
Contributors Claustres M, Kjellberg P, Desgeorges M   1992-07-13
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Phenotype Information CFTR2
Reference Claustres et al. 1993 

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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.

  • Casals T, Bassas L, Ruiz-Romero J, Chillon M, Gimenez J, Ramos MD, Tapia G, Narvaez H, Nunes V, Estivill X   Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.   1995 002;95(2):205-11
  • Fanen P, Clain J, Labarthe R, Hulin P, Girodon E, Pagesy P, Goossens M, Edelman A   Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis.   1999 006 11;452(3):371-4

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The Database was last updated at Apr 25, 2011