Protein Name p.Met607_Gln634del 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 1949del84 
Other Details This deletion has been detected by DNA amplification of exon 13 and electrophoresis on agarose. The mutation has been found in one family out of 24 Spanish families of cystic fibrosis tested. The patient is a six month old girl who presented meconium ileum at birth. She presented most of the repiratory, digestive and laboratory signs of cystic fibrosis. The 84 bp deletion was associated to the maternal allele carrying the father's allele the [delta]F508 deletion. This new deletion can be identified by exon 13 amplification followed by electrophoresis on agarose. 
Contributors Granell R, Solera J, Carrasco S, Molano J   1991-04-11
Institute Unidad de Genetica Molecular Madrid, Spain 
Submitted Phenotype Details The mutation was identified and reported in 5 patients, 4 of them (ages between 24 months and 17 years,3 females and one male) being PI, with sweat chloride around 100 mmol/l and over, one of the female patients being diagnosed at birth because of meconium ileus; the other 2 females were diagnosed at 2 and 4 months of age. The male was diagnosed at 6 years of age. The pulmonary symptoms were either mild, (FEV1 75% and 116%), or the patients were too young to determine the FEV1, but one had PA colonization.These 4 patients were carrying deltaF508 on the other allele, the fifth one was carrying an unidentified other mutation. The fifth patient (female, 24 months) was diagnosed when 4 months old. She is PS, too young to have the FEV1 determined and sweat chloride 82 mmol/l.(Nunes et al. 1992) 
Reference Granell 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.

  • Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X   Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.   1996 003;16(3):215-22
  • Granell R, Solera J, Carrasco S, Molano J   Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.   1992 005;50(5):1022-6
  • Nunes V, Casals T, Gaona A, Antinolo G, Ferrer-Calvete J, Perez-Frias J, Tardio E, Molano J, Estivill X   Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.   1992;1(5):375-9

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The Database was last updated at Apr 25, 2011