ABCC7 p.Thr351Ala

ClinVar: c.1052C>G , p.Thr351Ser ? , not provided
CF databases: c.1052C>T , p.Thr351Ile (CFTR1) ? , This mutation was identified in Polish infant during CF screening program. No other mutation was found after sequencing exons: 7,10,11,13,21. Mutations 3849+10kbC>T, dele2,3(21kb) and R117H were also excluded.
Predicted by SNAP2: A: D (91%), C: D (91%), D: D (91%), E: D (95%), F: D (95%), G: D (91%), H: D (91%), I: D (95%), K: D (95%), L: D (95%), M: D (85%), N: D (91%), P: D (95%), Q: D (95%), R: D (95%), S: D (66%), V: D (91%), W: D (95%), Y: D (95%),
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, R: N, S: N, V: N, W: N, Y: N,

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[hide] Gong X, Burbridge SM, Cowley EA, Linsdell P
Molecular determinants of Au(CN)(2)(-) binding and permeability within the cystic fibrosis transmembrane conductance regulator Cl(-) channel pore.
J Physiol. 2002 Apr 1;540(Pt 1):39-47., 2002-04-01 [PMID:11927667]

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[hide] Cui G, Song B, Turki HW, McCarty NA
Differential contribution of TM6 and TM12 to the pore of CFTR identified by three sulfonylurea-based blockers.
Pflugers Arch. 2012 Mar;463(3):405-18. Epub 2011 Dec 13., [PMID:22160394]

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