ABCB1 p.Arg527Trp
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In contrast, MDR3 speci®cally translocates phosphatidylcholine [8] and is required for phosphatidylcholine secretion into bile as evidenced by the ®nding that disruption of the murine MDR3 homolog, MDR2, Atherosclerosis: cell biology and lipoproteins494 ATP ATP ATP ATP ATP ATP M TM (TM-ABC)2(TM-ABC)2TM-ABC 12 8 5 18 7 19 16 1 9 4 10 17 NH2 11 6 2 extracellular COOH 15 21 20 14 (exon)5040 TM7-12 ATP 30 ATPTM1-6 2010 Position Mutation CHD Splenomegaly Source 1 del1764 stop + - [25,27] 2 N1740H + - [66] 3 del L633 + - [26] 4 R527W + - [39] 5 del 2 nt - + [22] (nt 3283) 6 3´ del - + [25] 7 N875S - + [25] 8 D1229L - - [26] 9 Q537R - - [26] 10 del755 stop + - [66] 11 C1417R + - [26] 12 G/C splice donor + - [26] site (intron 24) 13 ins 138 nt - yellow tonsils [39] (nt 5062) 14 ins 14 nt - yellow tonsils [39] (nt 5697) 15 ins 6513 stop - + [66] 16 A877V - + [25] 17 W530S - + [25] 18 R849 stop - + [67] 19 M1031T + [67] 20 del E1832 - [67] del D1834 21 R2084 stop + + [67] 3 13 ATP ATP 1 (a) (b) (c) (d) Figure 1.
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ABCB1 p.Arg527Trp 11048892:22:538
status: NEW