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PMID: 17805562
Mehta A
The cystic fibrosis transmembrane recruiter the alter ego of CFTR as a multi-kinase anchor.
Pflugers Arch. 2007 Nov;455(2):215-21. Epub 2007 Sep 6.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
113
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 17805562:113:17
status:
NEW
view ABCC7 p.Gly551Asp details
For example, the
G551D
mutation is an example that Fig. 1 CFTR modelled as a pair of scissors with each ATP trapped in a finger hole and sandwiched between the two ATP binding domains.
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123
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 17805562:123:3
status:
NEW
view ABCC7 p.Gly551Asp details
In
G551D
, for example, the G551 residue lies within a molecular lid that traps one gamma phosphate of ATP between the first and second nucleotide binding domains.
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124
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 17805562:124:29
status:
NEW
view ABCC7 p.Gly551Asp details
The extra negative charge in
G551D
means that this lid is malformed, perhaps being more repulsive to phosphate.
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