ABCC7 p.Arg31Leu

ClinVar: c.92G>T , p.Arg31Leu ? , not provided
c.91C>T , p.Arg31Cys ? , Uncertain significance
CF databases: c.91C>T , p.Arg31Cys N , Non CF-causing ; CFTR1: This missens mutation (in the CFTR gene) had a nucleotide change of C to T at position 223 in exon 2 leading to a cysteine for arginine substitution at codon 31 (R31C). The substitution has been found in a 35 years old man having an atypical form of CF.
c.92G>T , p.Arg31Leu (CFTR1) ? , This change has been detected by SSCP analysis of DNA amplified by PCR using the following primers: 21-5s; 5'-GTGAATATCTGTTCCTCCTC-3' and 21-3s; 5'-AGCCACCATACTTGGCTCCT-3'. The mutation can be analyzed by enzymatic digestion since the G224->T creates a new restriction site and destroys the existing one. It has been found once among 284 CF chromosomes and 144 normal chromosomes. The mutation on the other chromosome of the pancreatic sufficient CF patient is unknown.
Predicted by SNAP2: A: D (85%), C: D (85%), D: D (91%), E: D (91%), F: D (91%), G: D (91%), H: N (53%), I: D (85%), K: N (57%), L: D (66%), M: D (85%), N: D (91%), P: D (95%), Q: D (75%), S: D (91%), T: D (91%), V: D (85%), W: D (95%), Y: D (91%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Modiano G, Bombieri C, Ciminelli BM, Belpinati F, Giorgi S, Georges M, Scotet V, Pompei F, Ciccacci C, Guittard C, Audrezet MP, Begnini A, Toepfer M, Macek M, Ferec C, Claustres M, Pignatti PF
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.
Eur J Hum Genet. 2005 Feb;13(2):184-92., [PMID:15536480]

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[hide] Jurkuvenaite A, Varga K, Nowotarski K, Kirk KL, Sorscher EJ, Li Y, Clancy JP, Bebok Z, Collawn JF
Mutations in the amino terminus of the cystic fibrosis transmembrane conductance regulator enhance endocytosis.
J Biol Chem. 2006 Feb 10;281(6):3329-34. Epub 2005 Dec 8., 2006-02-10 [PMID:16339147]

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[hide] Roxo-Rosa M, Xu Z, Schmidt A, Neto M, Cai Z, Soares CM, Sheppard DN, Amaral MD
Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.
Proc Natl Acad Sci U S A. 2006 Nov 21;103(47):17891-6. Epub 2006 Nov 10., 2006-11-21 [PMID:17098864]

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[hide] Thelin WR, Chen Y, Gentzsch M, Kreda SM, Sallee JL, Scarlett CO, Borchers CH, Jacobson K, Stutts MJ, Milgram SL
Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.
J Clin Invest. 2007 Feb;117(2):364-74. Epub 2007 Jan 18., [PMID:17235394]

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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] Gene GG, Llobet A, Larriba S, de Semir D, Martinez I, Escalada A, Solsona C, Casals T, Aran JM
N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel.
Hum Mutat. 2008 May;29(5):738-49., [PMID:18306312]

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[hide] Ameen N, Silvis M, Bradbury NA
Endocytic trafficking of CFTR in health and disease.
J Cyst Fibros. 2007 Jan;6(1):1-14. Epub 2006 Nov 13., [PMID:17098482]

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[hide] Durno C, Corey M, Zielenski J, Tullis E, Tsui LC, Durie P
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis.
Gastroenterology. 2002 Dec;123(6):1857-64., [PMID:12454843]

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[hide] Morral N, Llevadot R, Casals T, Gasparini P, Macek M Jr, Dork T, Estivill X
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
Am J Hum Genet. 1994 Nov;55(5):890-8., [PMID:7526685]

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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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