Mutation Details for c.259T>C

cDNA Name c.259T>C 
Protein Name p.Phe87Leu 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name F87L 
Other Details This mutation in exon 3, was found in one French patient with CF. This mutation was detected by DGGE using chemical clamps and identified by direct sequencing : F87L (T->C at position 391). This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. This patient has [delta]F508 mutation on the other chromosome. 
Contributors Bienvenu T, Bousquet S, Morral N, Fonknechten N, Kaplan JC, Beldjord C   1993-06-07
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details The patient (male, 50) was diagnosed at 29y, is PS (no meconium ileus), has severe pulmonary disease and positive sweat chloride.DelF508 on the other allele. (pers. corr. Bienvenu) 
Reference Bienvenu et al. 1994c 

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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.

  • Bienvenu T, Petitpretz P, Beldjord C, Kaplan JC   A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene.   1994;3(4):395-6

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The Database was last updated at Apr 25, 2011