Mutation Details for c.959T>A

cDNA Name c.959T>A 
Protein Name p.Leu320X 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name L320X 
Other Details This nonsense mutation was identified by direct sequencing. It was detected in a 3 month old French boy, carrying the [delta]F508 deletion on the other allele. The CF phenotype is severe with a positive sweat chloride test (140 mmol/l) and a lung colonization by Pseudomonas aeruginosa. The mutation creates a new restriction site for Tru9I. 
Contributors Iron A, Reboul MP, Fayon M, Lacombe D   2001-11-20
Institute UF de Biologie Moléculaire, Service de Génétique Médicale, CHU de Bordeaux, France 
Submitted Phenotype Details The 3.5 years old male CF patient was diagnosed at 1 month of age for iterative ENT infections, is PI, with chronic pulmonary symptoms and sweat chloride 140 mmol/l. He carries deltaF508 on the other allele. (pers. corr. Iron) 
Reference Iron et al. 2001 

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