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PMID: 12586381
Cai J, Gros P
Overexpression, purification, and functional characterization of ATP-binding cassette transporters in the yeast, Pichia pastoris.
Biochim Biophys Acta. 2003 Feb 17;1610(1):63-76., 2003-02-17
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
188
ABCA4 p.Lys429Arg
X
ABCA4 p.Lys429Arg 12586381:188:62
status:
NEW
view ABCA4 p.Lys429Arg details
Studies with mutants at homologous positions in the Walker A (
K429R
/K1072R) and B (D551N/ D1196N) sequence motifs of NBD1 and NBD2 showed that alterations at either position completely inactivate the ATPase activity of P-gp.
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190
ABCB4 p.Ser430Ala
X
ABCB4 p.Ser430Ala 12586381:190:155
status:
NEW
view ABCB4 p.Ser430Ala details
Similar conclusions were reached from the study of additional loss-of- function mutants at highly conserved serine residues in the Walker A motif of NBD1 (
S430A
) and NBD2 (S1073A) [97].
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211
ABCA4 p.Lys429Arg
X
ABCA4 p.Lys429Arg 12586381:211:78
status:
NEW
view ABCA4 p.Lys429Arg details
ABCA4 p.Lys429Arg
X
ABCA4 p.Lys429Arg 12586381:211:130
status:
NEW
view ABCA4 p.Lys429Arg details
Under such conditions the trypsin sensitivity profiles of double P-gp mutants
K429R
/K1072R and D551N/D1196N and of single mutants
K429R
, K1072R, and D1196N were very similar and clearly distinct from the wild-type protein.
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316
ABCC6 p.Arg1268Gln
X
ABCC6 p.Arg1268Gln 12586381:316:32
status:
NEW
view ABCC6 p.Arg1268Gln details
Recently, a rare MRP6 mutation (
R1268Q
) in a PXE patient was found to be associated with type IV hyperlipidemia and hypoalphalipoproteinemia, suggesting that MRP6 may be a determinant of plasma lipoproteins [141].
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