Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.350G>A

cDNA Name	c.350G>A
Protein Name	p.Arg117His
Exon or Intron	exon 4
Legacy Exon or Intron	exon 4
Legacy Name	R117H
Other Details
Contributors	1990-01-01
Institute
Phenotype Information	CFTR2
Reference	Dean et al. 1990

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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.

Correlation between genotype and phenotype in patients with cystic fibrosis. The Cystic Fibrosis Genotype-Phenotype Consortium. 1993 010 28;329(18):1308-13

Axton RA, Brock DJ A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations. 1995;5(3):260-2

Bayleran JK, Yan H, Hopper CA, Simpson EM Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry. 1996 008;98(2):207-9

Becq F, Jensen TJ, Chang XB, Savoia A, Rommens JM, Tsui LC, Buchwald M, Riordan JR, Hanrahan JW Phosphatase inhibitors activate normal and defective CFTR chloride channels. 1994 009 13;91(19):9160-4

Bienvenu T, Beldjord C, Adjiman M, Kaplan JC Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. 1993 009;30(9):797

Boucher D, Creveaux I, Grizard G, Jimenez C, Hermabessiere J, Dastugue B Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme. 1999 006;5(6):587-93

Brock DJ, Gilfillan A, Holloway S The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies. 1998 001;53(1):47-9

Carson MR, Winter MC, Travis SM, Welsh MJ Pyrophosphate stimulates wild-type and mutant cystic fibrosis transmembrane conductance regulator Cl- channels. 1995 009 1;270(35):20466-72

Casals T, Bassas L, Ruiz-Romero J, Chillon M, Gimenez J, Ramos MD, Tapia G, Narvaez H, Nunes V, Estivill X Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. 1995 002;95(2):205-11

Cashman SM, Patino A, Delgado MG, Byrne L, Denham B, De Arce M The Irish cystic fibrosis database. 1995 012;32(12):972-5

Chen JM, Ferec C Molecular basis of hereditary pancreatitis. 2000 007;8(7):473-9

Chmiel JF, Drumm ML, Konstan MW, Ferkol TW, Kercsmar CM Pitfall in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis. 1999 004;103(4 Pt 1):823-6

Clancy JP, Ruiz FE, Sorscher EJ Adenosine and its nucleotides activate wild-type and R117H CFTR through an A2B receptor-coupled pathway. 1999 002;276(2 Pt 1):C361-9

Creighton JE, Lyall R, Wilson DI, Curtis A, Charnley RM Mutations of the cationic trypsinogen gene in patients with hereditary pancreatitis. 2000 002;87(2):170-5

Dasouki MJ, Cogan J, Summar ML, Neblitt W, Foroud T, Koller D, Phillips JA Heterogeneity in hereditary pancreatitis. 1998 004 28;77(1):47-53

Dork T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Bohm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 1997 009;100(3-4):365-77

Durieu I, Bey-Omar F, Rollet J, Boggio D, Bellon G, Morel Y, Vital Durand D [Male infertility caused by bilateral agenesis of the vas deferens: a new clinical form of cystic fibrosis]? 1997;18(2):114-8

Durieu I, Bey-Omar F, Rollet J, Calemard L, Boggio D, Lejeune H, Gilly R, Morel Y, Durand DV Diagnostic criteria for cystic fibrosis in men with congenital absence of the vas deferens. 1995 001;74(1):42-7

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

Ferec C, Verlingue C, Guillermit H, Quere I, Raguenes O, Feigelson J, Audrezet MP, Moullier P, Mercier B Genotype analysis of adult cystic fibrosis patients. 1993 010;2(10):1557-60

Fitzgerald D, Van Asperen P, Henry R, Waters D, Freelander M, Wilson M, Wilcken B, Gaskin K Delayed diagnosis of cystic fibrosis in children with a rare genotype (delta F508/R117H). 1995 006;31(3):168-71

Ford ME, Whitcomb DC Analysis of the hereditary pancreatitis-associated cationic trypsinogen gene mutations in exons 2 and 3 by enzymatic mutation detection from a single 2.2-kb polymerase chain reaction product. 1999 009;4(3):211-8

Friedman KJ, Heim RA, Knowles MR, Silverman LM Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease. 1997;10(2):108-15

Garnerone S, Restagno G, Santini B, Carbonara A [Cystic fibrosis: molecular genetics and new perspectives of prevention and therapy]. 1994 004-006;9(2):67-73

Gasparini P, Arbustini E, Restagno G, Zelante L, Stanziale P, Gatta L, Sbaiz L, Sedita AM, Banchieri N, Sapone L, Fiorucci GC, Brinson E, Shulse E, Rappaport E, Fortina P Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis. 1999;6(2):67-9

Gates LK, Ulrich CD, Whitcomb DC Hereditary pancreatitis. Gene defects and their implications. 1999 008;79(4):711-22, vii-viii

Gervais R, Dumur V, Rigot JM, Lafitte JJ, Roussel P, Claustres M, Demaille J High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. 1993 002 11;328(6):446-7

Gilfillan A, Warner JP, Kirk JM, Marshall T, Greening A, Ho LP, Hargreave T, Stack B, McIntyre D, Davidson R, Dean JC, Middleton W, Brock DJ P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population. 1998 002;35(2):122-5

Gorry MC, Gabbaizedeh D, Furey W, Gates LK, Preston RA, Aston CE, Zhang Y, Ulrich C, Ehrlich GD, Whitcomb DC Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. 1997 010;113(4):1063-8

Gusak NM, Gorovenko NG, Gorpinchenko II, Karmeliuk SO [An analysis of the mutations in the gene of the mucoviscidosis transmembrane regulator protein (MTRP) in patients with congenital bilateral aplasia of the vas deferens]. 1996 009-010;30(5):48-53

Howes N, Greenhalf W, Rutherford S, O'Donnell M, Mountford R, Ellis I, Whitcomb D, Imrie C, Drumm B, Neoptolemos JP A new polymorphism for the RI22H mutation in hereditary pancreatitis. 2001 002;48(2):247-50

Hughes D, Wallace A, Taylor J, Tassabehji M, McMahon R, Hill A, Nevin N, Graham C Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes. 1996;8(3):229-35

Hughes DJ, Hill AJ, Macek M, Redmond AO, Nevin NC, Graham CA Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. 1996;8(4):340-7

Irving RM, McMahon R, Clark R, Jones NS Cystic fibrosis transmembrane conductance regulator gene mutations in severe nasal polyposis. 1997 012;22(6):519-21

Jezequel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall JY, Le Lannou D, Blayau M Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. 1995 006;41(6 Pt 1):833-5

Jezequel P, Dubourg C, Le Lannou D, Odent S, Le Gall JY, Blayau M, Le Treut A, David V Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations. 2000 012;6(12):1063-7

Keim V, Hoffmeister A, Teich N, Halm U, Scheurlen M, Tannapfel A, Mossner J The pancreatitis-associated protein in hereditary and chronic alcoholic pancreatitis. 1999 010;19(3):248-54

Kerem B, Chiba-Falek O, Kerem E Cystic fibrosis in Jews: frequency and mutation distribution. 1997;1(1):35-9

Kiesewetter S, Macek M, Davis C, Curristin SM, Chu CS, Graham C, Shrimpton AE, Cashman SM, Tsui LC, Mickle J, et al A mutation in CFTR produces different phenotypes depending on chromosomal background. 1993 011;5(3):274-8

Kimura S, Okabayashi Y, Inushima K, Yutsudo Y, Kasuga M Polymorphism of cystic fibrosis gene in Japanese patients with chronic pancreatitis. 2000 010;45(10):2007-12

Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P Genetic determination of exocrine pancreatic function in cystic fibrosis. 1992 006;50(6):1178-84

Le Lannou D, Jezequel P, Blayau M, Dorval I, Lemoine P, Dabadie A, Roussey M, Le Marec B, Legall JY Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach. 1995 002;10(2):338-41

Lindner M, Wolf A, Moh B, Steinbach P, Kleihauer E, Bartram CR, Kulozik AE The spectrum of CFTR mutations in south-west German cystic fibrosis patients. 1992 011;90(3):267-9

Lucotte G, Hazout S Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles. 1995 008;67(4):562-76

Marchand E, Verellen-Dumoulin C, Mairesse M, Delaunois L, Brancaleone P, Rahier JF, Vandenplas O Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and 5T Allele in Patients With Allergic Bronchopulmonary Aspergillosis. 2001 003;119(3):762-767

Massie RJ, Wilcken B, Van Asperen P, Dorney S, Gruca M, Wiley V, Gaskin K Pancreatic function and extended mutation analysis in DeltaF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels. 2000 008;137(2):214-20

McCloskey M, Redmond AO, Hill A, Elborn JS Clinical features associated with a delayed diagnosis of cystic fibrosis. 2000;67(4):402-7

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

Morral N, Dork T, Llevadot R, Dziadek V, Mercier B, Ferec C, Costes B, Girodon E, Zielenski J, Tsui LC, Tummler B, Estivill X Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers. 1996;8(2):149-59

Nishimori I, Kamakura M, Fujikawa-Adachi K, Morita M, Onishi S, Yokoyama K, Makino I, Ishida H, Yamamoto M, Watanabe S, Ogawa M Mutations in exons 2 and 3 of the cationic trypsinogen gene in Japanese families with hereditary pancreatitis. 1999 002;44(2):259-63

Noone PG, Pue CA, Zhou Z, Friedman KJ, Wakeling EL, Ganeshananthan M, Simon RH, Silverman LM, Knowles MR Lung disease associated with the IVS8 5T allele of the CFTR gene. 2000 011;162(5):1919-24

Patrizio P, Asch RH, Handelin B, Silber SJ Aetiology of congenital absence of vas deferens: genetic study of three generations. 1993 002;8(2):215-20

Pradal U, Castellani C, Delmarco A, Mastella G Nasal potential difference in congenital bilateral absence of the vas deferens. 1998 009;158(3):896-901

Ravnik-Glavac M, Dean M, Glavac D Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. 2000;439(3 Suppl):R53-5

Ravnik-Glavac M, Dean M, di Sant'Agnese P, Chernick M, Kozelj M, Krizman I, Glavac D Evidence that hereditary pancreatitis is genetically heterogeneous disorder. 2000;439(3 Suppl):R50-2

Rossi L, Whitcomb DC, Ehrlich GD, Gorry MC, Parvin S, Sattar S, Ali L, Azad Khan AK, Gyr N Lack of R117H mutation in the cationic trypsinogen gene in patients with tropical pancreatitis from Bangladesh. 1998 010;17(3):278-80

Schwarz MJ, Malone GM, Haworth A, Cheadle JP, Meredith AL, Gardner A, Sawyer IH, Connarty M, Dennis N, Seller A, et al Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories. 1995;6(4):326-33

Sheppard DN, Rich DP, Ostedgaard LS, Gregory RJ, Smith AE, Welsh MJ Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties. 1993 003 11;362(6416):160-4

Shrimpton AE R117H and IVS8-5T cystic fibrosis mutation detection by restriction enzyme digestion. 2000 009;5(3):235-8

Shrimpton AE, McIntosh I, Brock DJ The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling. 1991 005;28(5):317-21

Sobczynska-Tomaszewska A, Wolski JK, Bal J 2000;53(11-12):644-51

Teich N, Mossner J, Keim V Screening for mutations of the cationic trypsinogen gene: are they of relevance in chronic alcoholic pancreatitis? 1999 003;44(3):413-6

Traystman MD, Schulte N, Colombo JL, Sammut PH, Reilly P, Patel C, Acquazzino D, Simanek B, Anderson R, Kimberling WJ, et al Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center. 1993;2(1):7-15

Traystman MD, Schulte NA, MacDonald M, Anderson JR, Sanger WG Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska Genetic Semen Bank. 1994;4(4):271-5

Truninger K, Kock J, Wirth HP, Muellhaupt B, Arnold C, von Weizsacker F, Seifert B, Ammann RW, Blum HE Trypsinogen gene mutations in patients with chronic or recurrent acute pancreatitis. 2001 001;22(1):18-23

Tuerlings JH, Mol B, Kremer JA, Looman M, Meuleman EJ, te Meerman GJ, Buys CH, Merkus HM, Scheffer H Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection. 1998 005;69(5):899-903

Weber P, Keim V, Zimmer KP Hereditary pancreatitis and mutation of the trypsinogen gene. 1999 005;80(5):473-4

Whitcomb DC, Ulrich CD Hereditary pancreatitis: new insights, new directions. 1999 007;13(2):253-63

Witt DR, Schaefer C, Hallam P, Wi S, Blumberg B, Fishbach A, Holtzman J, Kornfeld S, Lee R, Nemzer L, Palmer R Cystic fibrosis heterozygote screening in 5,161 pregnant women. 1996 004;58(4):823-35

al-Jader LN, Meredith AL, Ryley HC, Cheadle JP, Maguire S, Owen G, Goodchild MC, Harper PS Severity of chest disease in cystic fibrosis patients in relation to their genotypes. 1992 012;29(12):883-7

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The Database was last updated at Apr 25, 2011