ABCC7 p.His954Ala

ClinVar: c.2861A>C , p.His954Pro ? , not provided
CF databases: c.2861A>C , p.His954Pro (CFTR1) ? ,
Predicted by SNAP2: A: N (87%), C: N (87%), D: N (82%), E: N (93%), F: N (53%), G: N (82%), I: N (78%), K: N (93%), L: N (82%), M: N (82%), N: N (93%), P: N (61%), Q: N (93%), R: N (93%), S: N (93%), T: N (93%), V: N (82%), W: D (53%), Y: N (61%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, G: D, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, R: N, S: N, T: N, V: D, W: D, Y: N,

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[hide] Wang G
State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.
J Biol Chem. 2010 Dec 24;285(52):40438-47. Epub 2010 Oct 15., 2010-12-24 [PMID:20952391]

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[hide] Wang G
The inhibition mechanism of non-phosphorylated Ser768 in the regulatory domain of cystic fibrosis transmembrane conductance regulator.
J Biol Chem. 2011 Jan 21;286(3):2171-82. Epub 2010 Nov 8., 2011-01-21 [PMID:21059651]

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