Mutation Details for c.1055G>A

cDNA Name c.1055G>A 
Protein Name p.Arg352Gln 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name R352Q 
Other Details This missense mutation, at nucleotide position 1187 (G to A) in exon 7, has been detected in an Italian CF patient through DGGE and direct sequencing. The mutation generates an Arg to Gln substitution (R352Q) and creates a novel DdeI restriction site in the mutated allele. This mutation has been detected in a PS patient (paternal chromosome), associated with the haplotype A; the maternal chromosome carries a still uncharacterized mutation. It was found in one of 60 non-[delta] Italian CF chromosomes. 
Contributors Cremonesi L, Belloni E, Ferrari M Goossens M, Fanen P    1991-01-08
Institute Istituto di Ricovero e Cura a Carattere Scientifico Milan, Italy Creteil, France 
Phenotype Information CFTR2
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.

  • Brancolini V, Cremonesi L, Belloni E, Pappalardo E, Bordoni R, Seia M, Russo S, Padoan R, Giunta A, Ferrari M   Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.   1995 009;96(3):312-8
  • 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
  • Guinamard R, Akabas MH   Arg352 is a major determinant of charge selectivity in the cystic fibrosis transmembrane conductance regulator chloride channel.   1999 004 27;38(17):5528-37

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The Database was last updated at Apr 25, 2011