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PMID: 8572187
Howard M, DuVall MD, Devor DC, Dong JY, Henze K, Frizzell RA
Epitope tagging permits cell surface detection of functional CFTR.
Am J Physiol. 1995 Dec;269(6 Pt 1):C1565-76.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
241
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 8572187:241:31
status:
NEW
view ABCC7 p.Asn1303Lys details
A similar fate is expected for
N1303K
, which does not form a mature fully glycosylated protein.
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242
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 8572187:242:12
status:
NEW
view ABCC7 p.Gly551Asp details
Conversely,
G551D
CFTR also results in severe disease, but the protein appears to be fully glycosylated.
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243
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 8572187:243:46
status:
NEW
view ABCC7 p.Gly551Asp details
Immunofluorescence suggests colocalization of
G551D
with Na-K-ATPase at the plasma membrane of L cells (38).
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244
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 8572187:244:88
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly1349Asp
X
ABCC7 p.Gly1349Asp 8572187:244:99
status:
NEW
view ABCC7 p.Gly1349Asp details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 8572187:244:80
status:
NEW
view ABCC7 p.Asn1303Lys details
We produced four tagged dgCFTR mutants that are associated with disease: AF508,
N1303K
,
G551D
, and
G1349D
, bearing the M2 epitope at position 901.
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251
ABCC7 p.Asp1370Asn
X
ABCC7 p.Asp1370Asn 8572187:251:104
status:
NEW
view ABCC7 p.Asp1370Asn details
ABCC7 p.Lys1250Met
X
ABCC7 p.Lys1250Met 8572187:251:93
status:
NEW
view ABCC7 p.Lys1250Met details
M2-901 CFIR 5 0 -1 mV C constructed two dgCFTR mutants that are not associated with disease,
K1250M
and
D1370N
, also bearing This is a technical study that identifies sites appropri- the M2 epitope at position 901.
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255
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 8572187:255:91
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly1349Asp
X
ABCC7 p.Gly1349Asp 8572187:255:98
status:
NEW
view ABCC7 p.Gly1349Asp details
ABCC7 p.Asp1370Asn
X
ABCC7 p.Asp1370Asn 8572187:255:118
status:
NEW
view ABCC7 p.Asp1370Asn details
ABCC7 p.Lys1250Met
X
ABCC7 p.Lys1250Met 8572187:255:106
status:
NEW
view ABCC7 p.Lys1250Met details
Cell surface expression of M2-901/CFTR has been observed in a expression of M2-901-labeled
G551D
,
G1349D
,
K1250M
, and
D1370N
dgCFTRs correlates with carbohydrate variety of cell types including HEp-2, BSC40, and addition (Fig &A-II).
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256
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 8572187:256:91
status:
NEW
view ABCC7 p.Asn1303Lys details
Conversely, M2-901-labeled AF508 MDCK (data not shown), so that the findings presented and
N1303K
dgCFTR were not detected in the plasma here are not restricted to HeLa cells.
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264
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 8572187:264:73
status:
NEW
view ABCC7 p.Asn1303Lys details
Hoescht stain confirmed the presence of cells in the field for AF508 and
N1303K
.
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265
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 8572187:265:3
status:
NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly1349Asp
X
ABCC7 p.Gly1349Asp 8572187:265:13
status:
NEW
view ABCC7 p.Gly1349Asp details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 8572187:265:56
status:
NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Asp1370Asn
X
ABCC7 p.Asp1370Asn 8572187:265:35
status:
NEW
view ABCC7 p.Asp1370Asn details
ABCC7 p.Lys1250Met
X
ABCC7 p.Lys1250Met 8572187:265:24
status:
NEW
view ABCC7 p.Lys1250Met details
A:
G551D
; B:
G1349D
; C:
K1250M
; D:
D1370N
; E: AF508; F:
N1303K
.
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