ABCC7 p.Ser573Ala

CF databases: c.1718C>G , p.Ser573Cys (CFTR1) ? ,
c.1718C>T , p.Ser573Phe (CFTR1) ? ,
Predicted by SNAP2: A: N (82%), C: D (63%), D: N (72%), E: N (57%), F: D (85%), G: N (72%), H: D (80%), I: D (80%), K: D (59%), L: D (80%), M: D (80%), N: N (72%), P: D (59%), Q: N (61%), R: D (85%), T: N (78%), V: D (75%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, G: N, H: N, I: D, K: N, L: D, M: D, N: N, P: N, Q: N, R: D, T: N, V: D, W: D, Y: D,

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[hide] Kongsuphol P, Cassidy D, Hieke B, Treharne KJ, Schreiber R, Mehta A, Kunzelmann K
Mechanistic insight into control of CFTR by AMPK.
J Biol Chem. 2009 Feb 27;284(9):5645-53. Epub 2008 Dec 18., 2009-02-27 [PMID:19095655]

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[hide] Kongsuphol P, Cassidy D, Romeiras F, Schreiber R, Mehta A, Kunzelmann K
Metformin treatment of diabetes mellitus increases the risk for pancreatitis in patients bearing the CFTR-mutation S573C.
Cell Physiol Biochem. 2010;25(4-5):389-96. Epub 2010 Mar 23., [PMID:20332619]

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