Mutation Details for c.3476C>T

cDNA Name c.3476C>T 
Protein Name p.Ser1159Phe 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name S1159F 
Other Details This mutation was also reported by Seydewitz H H et al. on 8/11/2000. Published in Human Mutation; Mutation and Polymorphism Report #107 Online, Print 2000;15:390  
Contributors Férec C   1999-01-01
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The mutation was found in a French CF patient (female, 17y) diagnosed at 13y, PS, with mild lung disease, carrying deltaF508 on the other allele. (pers.corr. Ferec) One patient (female) 8months old, is PI, has moderate to severe lung disease (with rec. bronchitis and Staph. colonisation) and elevated sweat-chloride levels. This individual is homozygous for S1159F.(Pers. corr. Seydewitz)  
Reference Férec 1999 

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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.

  • Seydewitz HH, Mall M, Kuehr J   A novel missense mutation, S1159F, in exon 19 of the CFTR gene.   2000 004;15(4):390

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The Database was last updated at Apr 25, 2011