ABCC7 p.Thr582Ala

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] Chappe V, Hinkson DA, Zhu T, Chang XB, Riordan JR, Hanrahan JW
Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA.
J Physiol. 2003 Apr 1;548(Pt 1):39-52. Epub 2003 Feb 14., 2003-04-01 [PMID:12588899]

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[hide] Chappe V, Hinkson DA, Howell LD, Evagelidis A, Liao J, Chang XB, Riordan JR, Hanrahan JW
Stimulatory and inhibitory protein kinase C consensus sequences regulate the cystic fibrosis transmembrane conductance regulator.
Proc Natl Acad Sci U S A. 2004 Jan 6;101(1):390-5. Epub 2003 Dec 26., 2004-01-06 [PMID:14695900]

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[hide] Billet A, Luo Y, Balghi H, Hanrahan JW
Role of tyrosine phosphorylation in the muscarinic activation of the cystic fibrosis transmembrane conductance regulator (CFTR).
J Biol Chem. 2013 Jul 26;288(30):21815-23. doi: 10.1074/jbc.M113.479360. Epub 2013 Jun 11., [PMID:23760269]

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