Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.3196C>T

cDNA Name	c.3196C>T
Protein Name	p.Arg1066Cys
Exon or Intron	exon 20
Legacy Exon or Intron	exon 17b
Legacy Name	R1066C
Other Details	This mutation cannot be detected by restriction enzyme analysis, and they have been observed only once among 65 non-[delta]F508 CF chromosomes.
Contributors	Goossens M, Fanen P, Ghanem N, Martin J 1991-03-27
Institute	Unite de Recherches en Genetique Moleculaire et en Hematologie Montpellier, France
Phenotype Information	CFTR2
Reference	Fanen 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

Casals T, Pacheco P, Barreto C, Gimenez J, Ramos MD, Pereira S, Pinheiro JA, Cobos N, Curvelo A, Vazquez C, Rocha H, Seculi JL, Perez E, Dapena J, Carrilho E, Duarte A, Palacio AM, Nunes V, Lavinha J, Estivill X Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients. 1997;10(5):387-92

Cremonesi L, Cainarca S, Rossi A, Padoan R, Ferrari M Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis. 1996 007;98(1):119-21

Estivill X, Bancells C, Ramos C Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. 1997;10(2):135-54

Fanen P, Labarthe R, Garnier F, Benharouga M, Goossens M, Edelman A Cystic fibrosis phenotype associated with pancreatic insufficiency does not always reflect the cAMP-dependent chloride conductive pathway defect. Analysis of C225R-CFTR and R1066C-CFTR. 1997 011 28;272(48):30563-6

Liang MH, Wong LJ, Klein D, Shapiro B, Bowman CM, Hsu E, Wong LJ Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation. 1998 001;35(1):84-5

Pignatti PF, Bombieri C, Marigo C, Benetazzo M, Luisetti M Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. 1995 004;4(4):635-9

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The Database was last updated at Apr 25, 2011