Mutation Details for c.1057C>T

cDNA Name c.1057C>T 
Protein Name p.Gln353X 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name Q353X 
Other Details This mutation was detected by DGGE analysis, identified by direct DNA sequencing and confirmed by restriction site generating PCR assay. A modified primer (ATGTTTGTACAGCCC AGGGAAAGT) creates a RsaI site when the mutation is present. The mutation was seen in heterozygous form in two North-Eastern Italian CF patients. These subjects were presented with pancreatic insufficiency and severe lung disease. 
Contributors Seia M, Rainoldi A, Bonizzato A   2000-04-11
Institute Istituti Clinici di Perfezionamento Milano, Italy Centro Fibrosi Cistica Verona, Italy 
Submitted Phenotype Details The mutation was found in a 24-year old female cayying delF508 on the other allele. She was diagnosed with CF at 3.2yr of age, is PI, has severe lung disease with FEV1 16%, B. cepacia colonization, sweat chloride 108 mEq/l. She died of respiratory insufficiency. The mutation was also found in one additional patient.(pers. corr. Padoan) 
Reference Seia et al. 2000 

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The Database was last updated at Apr 25, 2011