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PMID: 21419343
Khushoo A, Yang Z, Johnson AE, Skach WR
Ligand-driven vectorial folding of ribosome-bound human CFTR NBD1.
Mol Cell. 2011 Mar 18;41(6):682-92., 2011-03-18
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
59
ABCC7 p.Ser485Cys
X
ABCC7 p.Ser485Cys 21419343:59:75
status:
NEW
view ABCC7 p.Ser485Cys details
Interestingly, this residue is also associated with a CF-causing mutation (
S485C
) (http://www.
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114
ABCC7 p.Lys464Ala
X
ABCC7 p.Lys464Ala 21419343:114:95
status:
NEW
view ABCC7 p.Lys464Ala details
ABCC7 p.Ala462Phe
X
ABCC7 p.Ala462Phe 21419343:114:84
status:
NEW
view ABCC7 p.Ala462Phe details
ABCC7 p.Trp401Ala
X
ABCC7 p.Trp401Ala 21419343:114:77
status:
NEW
view ABCC7 p.Trp401Ala details
In addition, mutations that inhibit ATP binding to NBD1 in full-length CFTR (
W401A
,
A462F
, and
K464A
[Berger et al., 2005]) also inhibited binding to truncated NBD1 (Figures 5E and 5F).
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205
ABCC7 p.Lys464Ala
X
ABCC7 p.Lys464Ala 21419343:205:60
status:
NEW
view ABCC7 p.Lys464Ala details
ABCC7 p.Ala462Phe
X
ABCC7 p.Ala462Phe 21419343:205:49
status:
NEW
view ABCC7 p.Ala462Phe details
ABCC7 p.Trp401Ala
X
ABCC7 p.Trp401Ala 21419343:205:42
status:
NEW
view ABCC7 p.Trp401Ala details
The CFP-NBD1 ATP-binding mutant contained
W401A
,
A462F
, and
K464A
mutations in the ATP-binding site as predicted by the crystal structure (2BBO).
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