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PMID: 10736180
Chen EY, Bartlett MC, Clarke DM
Cystic fibrosis transmembrane conductance regulator has an altered structure when its maturation is inhibited.
Biochemistry. 2000 Apr 4;39(13):3797-803., 2000-04-04
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
199
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 10736180:199:0
status:
NEW
view ABCC7 p.Arg297Gln details
R297Q
, which shows a similar level of maturation as the wild-type CFTR, showed CFTR-like channel activity.
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200
ABCC7 p.His949Tyr
X
ABCC7 p.His949Tyr 10736180:200:0
status:
NEW
view ABCC7 p.His949Tyr details
H949Y
is a partially processing-defective mutant that expressed less than 10% of the mature band, relative to wild type (3).
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202
ABCC7 p.Gly149Arg
X
ABCC7 p.Gly149Arg 10736180:202:0
status:
NEW
view ABCC7 p.Gly149Arg details
G149R
, like ∆F508, is a processing mutant with no detectable mature CFTR protein.
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224
ABCC7 p.Gly149Arg
X
ABCC7 p.Gly149Arg 10736180:224:124
status:
NEW
view ABCC7 p.Gly149Arg details
ABCC7 p.His949Tyr
X
ABCC7 p.His949Tyr 10736180:224:113
status:
NEW
view ABCC7 p.His949Tyr details
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 10736180:224:106
status:
NEW
view ABCC7 p.Arg297Gln details
Membranes were prepared from HEK cells transiently transfected with various CFTR cDNAs: WT, ∆F508,
R297Q
,
H949Y
, and
G149R
.
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