Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.1040G>A

cDNA Name	c.1040G>A
Protein Name	p.Arg347His
Exon or Intron	exon 8
Legacy Exon or Intron	exon 7
Legacy Name	R347H
Other Details	The patient is of Italian origin and carries the [delta]F508 mutation on the other chromosome. Initially we thought this was the same mutation as R347 because it destroys the same hhai site; however, R347H does not create the NcoI site.
Contributors	Devoto M, Ronchetto P, Romeo G 1991-06-10
Institute	Istituto Giannina Gastini Genoa, Italy
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.

Clain J, Fritsch J, Lehmann-Che J, Bali M, Arous N, Goossens M, Edelman A, Fanen P Two mild CF-associated mutations result in severe cystic fibrosis when combined in CIS and reveal a residue important for CFTR processing and function. 2000 012 15;

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

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

Flores-Martinez SE, Dean M, Saiki RK, Gallegos-Arreola MP, Moran-Moguel MC, Sanchez-Corona J Molecular analysis of northwestern Mexican patients with cystic fibrosis: screening of 10 known mutations. Mutations in brief no. 185. Online. 1998;12(3):217-8

Geller DH, Auchus RJ, Miller WL P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5. 1999 001;13(1):167-75

Hipper A, Mall M, Greger R, Kunzelmann K Mutations in the putative pore-forming domain of CFTR do not change anion selectivity of the cAMP activated Cl- conductance. 1995 011 6;374(3):312-6

Hojo S, Fujita J, Miyawaki H, Obayashi Y, Takahara J, Bartholomew DW Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype. 1998 001;53(1):50-3

Hojo S, Fujita J, Obayashi Y, Ohnishi T, Yamaji Y, Okada H, Takahara J [Two cases of cystic fibrosis in Japanese/German twins]. 1997 011;35(11):1259-64

Kosztolanyi G, Malik N, Rutishauser M Mild CF in a delta F508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes? 1996 002;49(2):103-5

Miller PW, Hamosh A, Macek M, Greenberger PA, MacLean J, Walden SM, Slavin RG, Cutting GR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis. 1996 007;59(1):45-51

Miller WL, Geller DH, Auchus RJ The molecular basis of isolated 17,20 lyase deficiency. 1998 008-011;24(3-4):817-25

Scotet V, De Braekeleer M, Audrezet MP, Lode L, Verlingue C, Quere I, Mercier B, Dugueperoux I, Codet JP, Moineau MP, Parent P, Ferec C Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis. 2001 001;59(1):42-7

Yilmaz E, Erdem H, Ozguc M, Coskun T, Ozcelik U, Gocmen A, Ozalp I Study of 12 mutations in Turkish cystic fibrosis patients. 1995 005-006;45(3):175-7

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The Database was last updated at Apr 25, 2011