ABCC7 p.Glu504Gln

ClinVar: c.1510G>T , p.Glu504* ? , not provided
c.1510G>C , p.Glu504Gln ? , not provided
CF databases: c.1510G>C , p.Glu504Gln (CFTR1) ? ,
Predicted by SNAP2: A: D (85%), C: D (91%), D: D (66%), F: D (95%), G: D (91%), H: D (91%), I: D (91%), K: D (95%), L: D (95%), M: D (95%), N: D (85%), P: D (95%), Q: N (53%), R: D (95%), S: D (85%), T: D (91%), V: D (91%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: N, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Orelle C, Dalmas O, Gros P, Di Pietro A, Jault JM
The conserved glutamate residue adjacent to the Walker-B motif is the catalytic base for ATP hydrolysis in the ATP-binding cassette transporter BmrA.
J Biol Chem. 2003 Nov 21;278(47):47002-8. Epub 2003 Sep 10., [PMID:12968023]

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[hide] Bianchet MA, Ko YH, Amzel LM, Pedersen PL
Modeling of nucleotide binding domains of ABC transporter proteins based on a F1-ATPase/recA topology: structural model of the nucleotide binding domains of the cystic fibrosis transmembrane conductance regulator (CFTR).
J Bioenerg Biomembr. 1997 Oct;29(5):503-24., [PMID:9511935]

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[hide] Ko YH, Pedersen PL
Frontiers in research on cystic fibrosis: understanding its molecular and chemical basis and relationship to the pathogenesis of the disease.
J Bioenerg Biomembr. 1997 Oct;29(5):417-27., [PMID:9511927]

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[hide] Ivaschenko TE, Baranov VS, Dean M
Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia.
Hum Genet. 1993 Mar;91(1):63-5., [PMID:7681034]

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