Mutation Details for c.775delinsTCTTCCTCAGATTCATTGTGATTACCTCA

cDNA Name c.775delinsTCTTCCTCAGATTCATTGTGATTACCTCA 
Protein Name p.Leu259SerfsX7 
Exon or Intron exon 7 
Other Details This mutation was identified on 1 Italian CF patient, applying a protocol of extended mutational search (5’-flanking region, all the exons and adjacent intronic regions) by direct sequencing. No other mutations were found on the same allele. The 2789+5GtoA mutation was found on the other allele.  
Contributors and Institutes
Lucarelli M - Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome
Pierandrei S - Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome
Di Gioia S A - Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome
Narzi L - Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome
Bruno S M - Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome
Stamato A - Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome
Quattrucci S - Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome
Strom S - Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome
  
Submitted Phenotype Details The individual (male, 4 years) with 907delCins29 / 2789+5GtoA genotype was selected by neonatal screening and diagnosed CF. He is PS with sweat chloride test at 85 and 93 mmol/l. He has mild lung disease with intermittent P. aeruginosa isolates, peribronchial infiltration and moderate air trapping. No meconium ileus. No liver involvement.  
Reference  

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