ABCC7 p.His1085Arg

Admin's notes: Class II (maturation defect) Veit et al.
ClinVar: c.3254A>G , p.His1085Arg D , Pathogenic/Likely pathogenic, not provided
CF databases: c.3254A>G , p.His1085Arg (CFTR1) D , The mutation was found once in 87 non-[delta]F508 chromosomes screened. The patient is 20 years old, pancreatic insufficient with no cirrhosis. The other chromosome is [delta]F508 and the H1085R is on a B haplotype. A girl homozygous for H1085R was also found in Japan by Kunihiko Yoshimura.
Predicted by SNAP2: A: D (85%), C: D (91%), D: D (91%), E: D (91%), F: D (91%), G: D (91%), I: D (91%), K: D (91%), L: D (91%), M: D (91%), N: D (85%), P: D (95%), Q: D (85%), R: N (53%), S: D (85%), T: D (91%), V: D (85%), W: D (91%), Y: D (91%),
Predicted by PROVEAN: A: D, C: D, D: N, E: N, F: D, G: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: N, R: N, S: N, T: D, V: D, W: D, Y: D,

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[hide] Yoshimura K, Wakazono Y, Iizuka S, Morokawa N, Tada H, Eto Y
A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis.
Clin Genet. 1999 Aug;56(2):173-5., [PMID:10517260]

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[hide] Chen JM, Cutler C, Jacques C, Boeuf G, Denamur E, Lecointre G, Mercier B, Cramb G, Ferec C
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Mol Biol Evol. 2001 Sep;18(9):1771-88., [PMID:11504857]

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[hide] Ravnik-Glavac M, Atkinson A, Glavac D, Dean M
DHPLC screening of cystic fibrosis gene mutations.
Hum Mutat. 2002 Apr;19(4):374-83., [PMID:11933191]

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[hide] Salvatore F, Scudiero O, Castaldo G
Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.
Am J Med Genet. 2002 Jul 22;111(1):88-95., 2002-07-22 [PMID:12124743]

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[hide] Naruse S, Ishiguro H, Suzuki Y, Fujiki K, Ko SB, Mizuno N, Takemura T, Yamamoto A, Yoshikawa T, Jin C, Suzuki R, Kitagawa M, Tsuda T, Kondo T, Hayakawa T
A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis.
Pancreas. 2004 Apr;28(3):e80-5., [PMID:15084988]

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[hide] Fujiki K, Ishiguro H, Ko SB, Mizuno N, Suzuki Y, Takemura T, Yamamoto A, Yoshikawa T, Kitagawa M, Hayakawa T, Sakai Y, Takayama T, Saito M, Kondo T, Naruse S
Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis.
J Med Genet. 2004 May;41(5):e55., [PMID:15121783]

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[hide] Cormet-Boyaka E, Jablonsky M, Naren AP, Jackson PL, Muccio DD, Kirk KL
Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation.
Proc Natl Acad Sci U S A. 2004 May 25;101(21):8221-6. Epub 2004 May 12., 2004-05-25 [PMID:15141088]

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[hide] Ngukam A, Jacquemont ML, Souville I, Viel M, Beldjord C, Hubert D, Hughes JN, Bienvenu T
A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.
J Trop Pediatr. 2004 Aug;50(4):239-40., [PMID:15357566]

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[hide] Kerem E
Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.
Pediatr Pulmonol. 2005 Sep;40(3):183-96., [PMID:15880796]

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[hide] Loo TW, Bartlett MC, Wang Y, Clarke DM
The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR-processing mutants.
Biochem J. 2006 May 1;395(3):537-42., 2006-05-01 [PMID:16417523]

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[hide] Wang Y, Bartlett MC, Loo TW, Clarke DM
Specific rescue of cystic fibrosis transmembrane conductance regulator processing mutants using pharmacological chaperones.
Mol Pharmacol. 2006 Jul;70(1):297-302. Epub 2006 Apr 19., [PMID:16624886]

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[hide] Wang Y, Loo TW, Bartlett MC, Clarke DM
Additive effect of multiple pharmacological chaperones on maturation of CFTR processing mutants.
Biochem J. 2007 Sep 1;406(2):257-63., 2007-09-01 [PMID:17535157]

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[hide] Skach WR
Pharmacological chaperoning: two 'hits' are better than one.
Biochem J. 2007 Sep 1;406(2):e1-2., 2007-09-01 [PMID:17680777]

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[hide] Cheung JC, Deber CM
Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.
Biochemistry. 2008 Feb 12;47(6):1465-73. Epub 2008 Jan 15., 2008-02-12 [PMID:18193900]

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[hide] Cormet-Boyaka E, Hong JS, Berdiev BK, Fortenberry JA, Rennolds J, Clancy JP, Benos DJ, Boyaka PN, Sorscher EJ
A truncated CFTR protein rescues endogenous DeltaF508-CFTR and corrects chloride transport in mice.
FASEB J. 2009 Nov;23(11):3743-51. Epub 2009 Jul 20., [PMID:19620404]

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[hide] Izumikawa K, Tomiyama Y, Ishimoto H, Sakamoto N, Imamura Y, Seki M, Sawai T, Kakeya H, Yamamoto Y, Yanagihara K, Mukae H, Yoshimura K, Kohno S
Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan.
Intern Med. 2009;48(15):1327-31. Epub 2009 Aug 3., [PMID:19652440]

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[hide] Bertrand J, Boucherle B, Billet A, Melin-Heschel P, Dannhoffer L, Vandebrouck C, Jayle C, Routaboul C, Molina MC, Decout JL, Becq F, Norez C
Identification of a novel water-soluble activator of wild-type and F508del CFTR: GPact-11a.
Eur Respir J. 2010 Aug;36(2):311-22. Epub 2010 Jan 28., [PMID:20110398]

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[hide] Loo TW, Bartlett MC, Clarke DM
Benzbromarone stabilizes DeltaF508 CFTR at the cell surface.
Biochemistry. 2011 May 31;50(21):4393-5. Epub 2011 May 3., 2011-05-31 [PMID:21520952]

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[hide] Loo TW, Clarke DM
Repair of CFTR folding defects with correctors that function as pharmacological chaperones.
Methods Mol Biol. 2011;741:23-37., [PMID:21594776]

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[hide] Alonso MJ, Heine-Suner D, Calvo M, Rosell J, Gimenez J, Ramos MD, Telleria JJ, Palacio A, Estivill X, Casals T
Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.
Ann Hum Genet. 2007 Mar;71(Pt 2):194-201., [PMID:17331079]

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[hide] Loo TW, Bartlett MC, Shi L, Clarke DM
Corrector-mediated rescue of misprocessed CFTR mutants can be reduced by the P-glycoprotein drug pump.
Biochem Pharmacol. 2012 Feb 1;83(3):345-54. Epub 2011 Nov 28., [PMID:22138447]

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[hide] Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong LJ
Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.
J Mol Diagn. 2008 Jul;10(4):368-75. Epub 2008 Jun 13., [PMID:18556774]

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[hide] Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Hum Mutat. 2000;16(2):143-56., [PMID:10923036]

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[hide] Cotten JF, Ostedgaard LS, Carson MR, Welsh MJ
Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator.
J Biol Chem. 1996 Aug 30;271(35):21279-84., [PMID:8702904]

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[hide] Seibert FS, Linsdell P, Loo TW, Hanrahan JW, Clarke DM, Riordan JR
Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity.
J Biol Chem. 1996 Jun 21;271(25):15139-45., [PMID:8662892]

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[hide] 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.
Hum Mutat. 1996;8(2):149-59., [PMID:8844213]

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[hide] Pignatti PF, Bombieri C, Marigo C, Benetazzo M, Luisetti M
Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.
Hum Mol Genet. 1995 Apr;4(4):635-9., [PMID:7543317]

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[hide] Mercier B, Lissens W, Novelli G, Kalaydjieva L, de Arce M, Kapranov N, Canki Klain N, Estivill X, Palacio A, Cashman S, et al.
A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.
J Med Genet. 1994 Sep;31(9):731-4., [PMID:7529319]

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[hide] Chevalier-Porst F, Bonardot AM, Gilly R, Chazalette JP, Mathieu M, Bozon D
Mutation analysis in 600 French cystic fibrosis patients.
J Med Genet. 1994 Jul;31(7):541-4., [PMID:7525963]

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[hide] Ravnik-Glavac M, Glavac D, Dean M
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Hum Mol Genet. 1994 May;3(5):801-7., [PMID:7521710]

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[hide] Chillon M, Casals T, Gimenez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.
Hum Genet. 1994 Apr;93(4):447-51., [PMID:7513293]

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[hide] Loo TW, Bartlett MC, Clarke DM
Corrector VX-809 stabilizes the first transmembrane domain of CFTR.
Biochem Pharmacol. 2013 Sep 1;86(5):612-9. doi: 10.1016/j.bcp.2013.06.028. Epub 2013 Jul 5., [PMID:23835419]

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[hide] Van Goor F, Yu H, Burton B, Hoffman BJ
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.
J Cyst Fibros. 2014 Jan;13(1):29-36. doi: 10.1016/j.jcf.2013.06.008. Epub 2013 Jul 23., [PMID:23891399]

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[hide] Loo TW, Clarke DM
The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds.
Biochem Pharmacol. 2014 Mar 1;88(1):46-57. doi: 10.1016/j.bcp.2013.12.027. Epub 2014 Jan 9., [PMID:24412276]

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