Mutation Details for c.409delC

cDNA Name c.409delC 
Protein Name p.Leu137SerfsX16 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 541delC 
Other Details This frameshift mutation is in exon 4 in two CF chromosomes. In both patients the deletion is associated with haplotype B; one patient inherited it from his mother; the other one from his father. Both patients originate from Lombardy, carry the [delta]F508 mutation on the other chromosome and have severe pancreatic deficiency. The mutation (the deletion of C at 541) has not been foun in 58 other non-[delta]F508 Italian CF chromosomes and 20 normal chromosomes tested. 
Contributors Goossens M, Fanen P, Cremonesi L, Belloni E   1992-03-09
Institute Istituto di Ricovero e Cura a Carattere Scientifico  
Submitted Phenotype Details The mutation was identified in 2 male patient (17 years old), twins, diagnosed at 1 month of age with CF, PI, with mild pulmonary symptoms (FEV1 87%) and sweat chloride 128 mmol/l, also diagnosed with ABPA and liver disease. DeltaF508 was found on the other allele. (pers corr. Cremonesi and Cremonesi et al. 1992) 
Reference Cremonesi et al., 1992 

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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.

  • Cremonesi L, Ferrari M, Belloni E, Magnani C, Seia M, Ronchetto P, Rady M, Russo MP, Romeo G, Devoto M   Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.   1992;1(4):314-9

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The Database was last updated at Apr 25, 2011