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. Login to comment
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). Login to comment
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). Login to comment