ABCC7 p.Lys464His

ClinVar: c.1392G>T , p.Lys464Asn ? , not provided
Predicted by SNAP2: A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), L: D (95%), M: D (95%), N: D (91%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Annereau JP, Ko YH, Pedersen PL
Cystic fibrosis transmembrane conductance regulator: the NBF1+R (nucleotide-binding fold 1 and regulatory domain) segment acting alone catalyses a Co2+/Mn2+/Mg2+-ATPase activity markedly inhibited by both Cd2+ and the transition-state analogue orthovanadate.
Biochem J. 2003 Apr 15;371(Pt 2):451-62., 2003-04-15 [PMID:12523935]

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[hide] Seibert FS, Loo TW, Clarke DM, Riordan JR
Cystic fibrosis: channel, catalytic, and folding properties of the CFTR protein.
J Bioenerg Biomembr. 1997 Oct;29(5):429-42., [PMID:9511928]

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[hide] Ko YH, Pedersen PL
The first nucleotide binding fold of the cystic fibrosis transmembrane conductance regulator can function as an active ATPase.
J Biol Chem. 1995 Sep 22;270(38):22093-6., [PMID:7545672]

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