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PMID: 17655203
Mukhamedova N, Fu Y, Bukrinsky M, Remaley AT, Sviridov D
The role of different regions of ATP-binding cassette transporter A1 in cholesterol efflux.
Biochemistry. 2007 Aug 21;46(33):9388-98. Epub 2007 Jul 26.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
269
ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 17655203:269:56
status:
NEW
view ABCA1 p.Trp590Ser details
ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 17655203:269:212
status:
NEW
view ABCA1 p.Trp590Ser details
ABCA1 p.Gln597Arg
X
ABCA1 p.Gln597Arg 17655203:269:63
status:
NEW
view ABCA1 p.Gln597Arg details
ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 17655203:269:110
status:
NEW
view ABCA1 p.Cys1477Arg details
ABCA1 p.Arg587Trp
X
ABCA1 p.Arg587Trp 17655203:269:49
status:
NEW
view ABCA1 p.Arg587Trp details
ABCA1 p.Ser1506Leu
X
ABCA1 p.Ser1506Leu 17655203:269:74
status:
NEW
view ABCA1 p.Ser1506Leu details
Natural mutations found in the Tangier pedigree,
R587W
,
W590S
,
Q597R
, and
S1506L
, as well as generated mutant
C1477R
strongly inhibited cholesterol and phospholipid efflux (28, 35, 36) and, with the exception of
W590S
, also apoA-I binding (36).
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288
ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 17655203:288:23
status:
NEW
view ABCA1 p.Trp590Ser details
Other mutations (e.g.,
W590S
) inhibited cholesterol efflux with apoA-I binding intact (30, 35, 36).
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315
ABCA1 p.Trp590Ser
X
ABCA1 p.Trp590Ser 17655203:315:25
status:
NEW
view ABCA1 p.Trp590Ser details
As with the ABCA1 mutant
W590S
(35, 36), the antibody NDF4C2 inhibited cholesterol efflux without affecting apoA-I binding to ABCA1.
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