Mutation Details for c.80G>A

cDNA Name c.80G>A 
Protein Name p.Gly27Glu 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name G27E 
Other Details This mutation, in exon 2, was found in a French male patient and was detected by DGGE using chemical clamps and identified by direct sequencing : G27E (G->A at 212). This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. The patient is sufficient pancreatic, presents a mild pulmonary form and male infertility. He has the [delta]F508 mutation on the other chromosome. 
Contributors Bienvenu T, Cazaneuve C, Kaplan JC, Beldjord C   1993-08-02
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details The patient (male, 46) was diagnosed at 41 with CBAVD, is PS (no meconium ileus), has mild pulmonary disease, sweat chloride 120 mmol/l. DelF508 on the other allele (pers. corr. Bienvenu) 
Reference Bienvenu et al. 1994a 

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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, Cazeneuve C, Beldjord C, Dusser D, Kaplan JC, Hubert D   A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.   1994 002;3(2):365-6
  • Tsujino S, Kanazawa N, Ohashi T, Eto Y, Saito T, Kira J, Yamada T   Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.   2000 005;47(5):625-31

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The Database was last updated at Apr 25, 2011