ABCC7 p.Glu1371Ala
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PMID: 16989640
[PubMed]
Stratford FL et al: "The Walker B motif of the second nucleotide-binding domain (NBD2) of CFTR plays a key role in ATPase activity by the NBD1-NBD2 heterodimer."
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Comment
30
In support of this model, mutation of the Walker A lysine (K1250A) or the Walker B glutamate (E1371A/Q) in the conventional catalytic site leads to defective channel closure, resulting in prolonged channel open Abbreviations used: ABC, ATP-binding cassette; CF, cystic fibrosis; CFTR, CF transmembrane conductance regulator; HA, haemagglutinin; NBD, nucleotide-binding domain; MSD, membrane spanning domain; PFO, pentadecafluorooctanoic acid; TNP-ATP, 2 (3)-O-(2,4,6-trinitrophenyl)adenosine 5-triphosphate.
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ABCC7 p.Glu1371Ala 16989640:30:94
status: NEW