Mutation Details for c.266A>G

cDNA Name c.266A>G 
Protein Name p.Tyr89Cys 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name Y89C 
Other Details This mutation was detected by DGGE analysis followed by direct sequencing in a young Italian male (19-yr.). His other CF mutation is unknown. It was found once out of 800 CF chromosomes. It was also absent in 200 chromosomes of patients affected by diffuse bronchiectasies or by nasal polyposis and in 100 control chromosomes. (Italian origin)Clinical features of the patient: Bronchiectasies of left lower lobe leading to lobectomia at 8 yrs. Nasal polyposis. Pancreatic sufficiency. Moderate-severe lung disease (FVC 68%, FEVI 69% of predicted) with chronic Pseudomonas lung infection. Oligospermia and teratospermia. Sweat test is normal (<30 mEq/L)(repeated).  
Contributors Seia M, Padoan R, Cantù A, Giunta A    1999-09-23
Institute Lab. Genetica Molecolare, Centro Fibrosi Cistica, ICP e Università degli Studi, Italy 
Submitted Phenotype Details One patient (19, male) diagnosed before 1 yr old, PS FEV1=69%, normal sweat chloride, oligo&teratospermia, PA colonisation. No other mutation known. One patient (male) Y89C was found because of prenatal diagnostic test in a male fetus, carrying the 2789+5G->A mutation on the second chromosome. It was chosen by the parents not to terminate the pregnancy and a male was born. He had a normal screening test (neonatal trypsinaemia in the normal range), a slight elevated sweat test (27 and 30 mmmol/L chloride),and no symptoms. Pancreatic sufficiency and normal growth, no pulmonary symptoms. (Padoan et all 2000 pers.corr. Padoan) 
Reference Seia et al. 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.

  • Mashima Y, Shinoda K, Ishida S, Ozawa Y, Kudoh J, Iwata T, Oguchi Y, Shimizu N   Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.   1999;13(4):338
  • Padoan R, Costantini D, Russo MC, Ambrosioni A, Fiori S, Prandoni S, Cantu-Rajnoldi A, Seia M, Giunta A   A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male.   2000 005;15(5):486

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The Database was last updated at Apr 25, 2011