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PMID: 12069597
Cai J, Daoud R, Alqawi O, Georges E, Pelletier J, Gros P
Nucleotide binding and nucleotide hydrolysis properties of the ABC transporter MRP6 (ABCC6).
Biochemistry. 2002 Jun 25;41(25):8058-67., 2002-06-25
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
55
ABCC6 p.Arg1268Gln
X
ABCC6 p.Arg1268Gln 12069597:55:118
status:
NEW
view ABCC6 p.Arg1268Gln details
ABCC6 p.Arg1138Gln
X
ABCC6 p.Arg1138Gln 12069597:55:91
status:
NEW
view ABCC6 p.Arg1138Gln details
ABCC6 p.Arg1114Pro
X
ABCC6 p.Arg1114Pro 12069597:55:83
status:
NEW
view ABCC6 p.Arg1114Pro details
ABCC6 p.Arg1314Trp
X
ABCC6 p.Arg1314Trp 12069597:55:102
status:
NEW
view ABCC6 p.Arg1314Trp details
ABCC6 p.Trp1259Gly
X
ABCC6 p.Trp1259Gly 12069597:55:110
status:
NEW
view ABCC6 p.Trp1259Gly details
Interestingly, most of the single amino acid substitutions mapped in NBD2 of MRP6 (
R1114P
,
R1138Q
/ W,
R1314W
,
W1259G
,
R1268Q
) with none in NBD1.
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78
ABCC2 p.Gly389Cys
X
ABCC2 p.Gly389Cys 12069597:78:71
status:
NEW
view ABCC2 p.Gly389Cys details
Sequence analysis of this clone identified a double nucleotide change (
G389C
and C390G) from that of the published sequence, which results in a Ser to Thr substitution (at amino acid residue 122) within the first membrane-associated domain of the protein.
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