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 

To check if there are any papers published about this mutation/variant on PubMed, please click here.




Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011