ABCC7 p.Glu1228Gly

CF databases: c.3682G>A , p.Glu1228Lys (CFTR1) ? ,
c.3683A>G , p.Glu1228Gly (CFTR1) ? , This mutation was found by DGGE and identified by DNA sequencing. It was found in a Turkish patient; mutation on the other CF chromosome remains unidentified.
Predicted by SNAP2: A: N (72%), C: N (78%), D: N (72%), F: D (66%), G: D (66%), H: N (78%), I: D (63%), K: N (87%), L: D (63%), M: N (53%), N: N (66%), P: D (80%), Q: N (93%), R: N (78%), S: N (87%), T: N (53%), V: D (63%), W: D (75%), Y: D (66%),
Predicted by PROVEAN: A: N, C: D, D: N, F: D, G: D, H: N, I: D, K: N, L: D, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: D, W: D, Y: D,

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[hide] Conseil G, Deeley RG, Cole SP
Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters.
Pharmacogenet Genomics. 2005 Aug;15(8):523-33., [PMID:16006996]

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