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PMID: 10720935
Skach WR
Defects in processing and trafficking of the cystic fibrosis transmembrane conductance regulator.
Kidney Int. 2000 Mar;57(3):825-31.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
52
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 10720935:52:97
status:
NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Gly91Arg
X
ABCC7 p.Gly91Arg 10720935:52:106
status:
NEW
view ABCC7 p.Gly91Arg details
The post-translational pathway is utilized by most (Ͼ60%) of WT chains and essentially all
G85E
and
G91R
mutant chains.
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76
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 10720935:76:45
status:
NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Gly91Arg
X
ABCC7 p.Gly91Arg 10720935:76:54
status:
NEW
view ABCC7 p.Gly91Arg details
While it is often tempting Two CF mutations,
G85E
and
G91R
, each introduce to view the acquisition of protein function as a criteria an additional charged residue within the hydrophobic for "normal" folding, in the case of CFTR this is not core of TM1.
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79
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 10720935:79:20
status:
NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Gly91Arg
X
ABCC7 p.Gly91Arg 10720935:79:29
status:
NEW
view ABCC7 p.Gly91Arg details
This suggested that
G85E
and
G91R
CFTR mutants [35].
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93
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 10720935:93:33
status:
NEW
view ABCC7 p.Gly85Glu details
In addition, they indicated that
G85E
and Golgi and lysosome-independent compartment.
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