Mutation Details for c.326A>G

cDNA Name c.326A>G 
Protein Name p.Tyr109Cys 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Y109C 
Other Details This mutation is exon 4 of the CFTR gene was found in a patient with CF: A->G at position 458 converting tyrosine 109 to cysteine. It has not been found on other CF- and non CF-chromosomes, minimizing the possibility of a polymorphism. The patinet has an unknown mutation on the other chromosome. 
Contributors Holmberg L, Schaedel C   1993-10-08
Institute Institutionen for Pediatrik Lund, Sweden 
Submitted Phenotype Details One patient (16, female)diagnosed at 9 mths, PS, FEV1 61-72%, sweat chl 95 mEq/l, Staph infections and PA colonisation. 3659delC on the other allele. (Schaedel et all 1994)  
Reference Schaedel et al. 1994 

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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.

  • Schaedel C, Kristoffersson AC, Kornfalt R, Holmberg L   A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.   1994 006;3(6):1001-2

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The Database was last updated at Apr 25, 2011