ABCC7 p.Thr582Arg

ClinVar: c.1744A>T , p.Thr582Ser ? , not provided
c.1745C>G , p.Thr582Arg ? , not provided
c.1745C>T , p.Thr582Ile ? , not provided
CF databases: c.1745C>T , p.Thr582Ile (CFTR1) D ,
c.1744A>T , p.Thr582Ser (CFTR1) ? ,
c.1745C>G , p.Thr582Arg (CFTR1) ? , The mutation was detected by DGGE and direct sequencing. The C in position 1877 changes to G and leads to T582R. The mutation has been found in one Spanish CF patient carrying 1609delCA on the other chromosome (1 among 98 non-[delta]F508 screened). He has inherited the T582R from his mother who is originally from Aragon. The mutation is associated to a very rare microsatellite haplotype (18/37/13), in fact this man is the only CF patient we have with this haplotype. We have not found any normal chromosome carrying this haplotype neither. The patient is a 37 year old PS and has no Pseudomonas colonization. He has repiratpry problems and a sweat test with values higher than 120 mEq/1.
Predicted by SNAP2: A: N (72%), C: N (53%), D: D (71%), E: D (75%), F: D (75%), G: D (63%), H: D (66%), I: N (57%), K: D (80%), L: N (57%), M: D (66%), N: N (53%), P: D (66%), Q: D (66%), R: D (80%), S: N (61%), V: N (93%), W: D (80%), Y: D (75%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, V: N, W: D, Y: D,

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[hide] Witt H
Chronic pancreatitis and cystic fibrosis.
Gut. 2003 May;52 Suppl 2:ii31-41., [PMID:12651880]

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[hide] Eudes R, Lehn P, Ferec C, Mornon JP, Callebaut I
Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.
Cell Mol Life Sci. 2005 Sep;62(18):2112-23., [PMID:16132229]

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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] Schrijver I, Oitmaa E, Metspalu A, Gardner P
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
J Mol Diagn. 2005 Aug;7(3):375-87., [PMID:16049310]

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[hide] Lazaro C, de Cid R, Sunyer J, Soriano J, Gimenez J, Alvarez M, Casals T, Anto JM, Estivill X
Missense mutations in the cystic fibrosis gene in adult patients with asthma.
Hum Mutat. 1999;14(6):510-9., [PMID:10571949]

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[hide] Casals T, Ramos MD, Gimenez J, Larriba S, Nunes V, Estivill X
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.
Hum Genet. 1997 Dec;101(3):365-70., [PMID:9439669]

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[hide] Jordanova A, Kalaydjieva L, Savov A, Claustres M, Schwarz M, Estivill X, Angelicheva D, Haworth A, Casals T, Kremensky I
SSCP analysis: a blind sensitivity trial.
Hum Mutat. 1997;10(1):65-70., [PMID:9222762]

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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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