ABCC7 p.Glu528Gln

ClinVar: c.1584G>A , p.Glu528= N , Benign
c.1584G>T , p.Glu528Asp ? , not provided
CF databases: c.1582G>A , p.Glu528Lys (CFTR1) ? , The mutation was identified in Polish child during CF newborn screening programme.
Predicted by SNAP2: A: N (53%), C: N (53%), D: N (66%), F: D (66%), G: D (66%), H: N (53%), I: D (66%), K: N (82%), L: D (66%), M: D (59%), N: D (53%), P: D (66%), Q: N (93%), R: N (78%), S: N (53%), T: N (82%), V: D (59%), W: D (75%), Y: D (63%),
Predicted by PROVEAN: A: N, C: D, D: N, F: D, G: D, H: N, I: D, K: N, L: D, M: D, N: N, P: N, Q: N, R: N, S: N, T: N, V: D, W: D, Y: D,

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[hide] Da Paula AC, Sousa M, Xu Z, Dawson ES, Boyd AC, Sheppard DN, Amaral MD
Folding and rescue of a cystic fibrosis transmembrane conductance regulator trafficking mutant identified using human-murine chimeric proteins.
J Biol Chem. 2010 Aug 27;285(35):27033-44. Epub 2010 Jun 15., 2010-08-27 [PMID:20551307]

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