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. Login to comment
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]. Login to comment
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. Login to comment
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]. Login to comment