ABCB4 p.Thr217Cys
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PMID: 20103563
[PubMed]
Klaassen CD et al: "Xenobiotic, bile acid, and cholesterol transporters: function and regulation."
No.
Sentence
Comment
6427
Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/Localization SLCO1A2 OATP1A2 T38C I13T 1↔ Normal A382T N128Y ↔ N.D. A404T N135I 2↔ N.D. C502T R168C 2 N.D. A516C E172D 2 Intracellular G559A A187T 2 Normal A833- Asn278STOP 2 N.D. C2003G T668S ↔ Intracellular SLCO1B1 OATP1B1 T217C F73L 2 Intracellular T245C V82A 2 Intracellular A388G N130D 2↔ Normal A452G N151S N.D. N.D. C463A P155T ↔ Normal A467G E156G 2 Normal T521C V174A 2 Intracellular/normal T578G L193R 2 Intracellular C1007G P336R N.D. N.D. T1058C I353T 2 Intracellular A1294G N432D 2↔ Normal A1385G D462G ↔ Normal G1454T C485F N.D. N.D. G1463C G488A 2 Intracellular T1628G L543W N.D. N.D. A1964G D655G 2↔ Normal A2000G E667G 2↔ Normal SLCO1B3 OATP1B3 T334G S112A 1↔ Normal G699A M233I ↔ Normal G1564T G522C 2↔ Reduced G1748A G583E 2↔ Reduced 2, reduced function; 1, increased function; ↔, no change in function; N.D. not determined. ions.
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ABCB4 p.Thr217Cys 20103563:6427:326
status: NEW