Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.3472C>T

cDNA Name	c.3472C>T
Protein Name	p.Arg1158X
Exon or Intron	exon 22
Legacy Exon or Intron	exon 19
Legacy Name	R1158X
Other Details	The patient is pancreatic sufficient, and carries an unknown mutation on the other chromosome.
Contributors	Romeo G, Ronchetto P, Telleria JJ, Devoto M, Fanen P, Goossens M 1991-03-01
Institute	Istituto Giannina Gaslini Genoa, Italy
Phenotype Information	CFTR2
Reference	Ronchetto 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.

Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, Scarpa M, Goossens M, Salvatore F Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations. 1999 007;45(7):957-62

Claustres M, Desgeorges M, Moine P, Morral N, Estivill X CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. 1996 009;98(3):336-44

Duarte A, Amaral M, Barreto C, Pacheco P, Lavinha J Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient. 1996;8(2):134-9

Frossard PM, Abdelaziz SA, Hertecant J, Girodon E, Goossens M, Dawson KP Mild clinical phenotype associated with R1158X/S549R(T-->G) CFTR genotype. 2000 008;58(2):147-9

Ronchetto P, Telleria Orriols JJ, Fanen P, Cremonesi L, Ferrari M, Magnani C, Seia M, Goossens M, Romeo G, Devoto M A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene. 1992 002;12(2):417-8

de Braekeleer M, Mari G, Verlingue C, Allard C, Leblanc JP, Simard F, Aubin G, Ferec C Clinical features of cystic fibrosis patients with rare genotypes in Saguenay Lac-Saint-Jean (Quebec, Canada). 1997;40(4):205-8

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The Database was last updated at Apr 25, 2011