ABCC12 p.Thr1291Cys
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PMID: 20103563
[PubMed]
Klaassen CD et al: "Xenobiotic, bile acid, and cholesterol transporters: function and regulation."
No.
Sentence
Comment
6589
Absent C421A Q141K 2 Normal/reduced G445C A149P ↔ Normal G448A R163K ↔ Normal C496G Q166E ↔ Normal/reduced A616C I206L 2↔ Normal T623C F208S N.D. Reduced T742C S248P N.D. Normal C805T P269S 2↔ Normal T1291C F431L 2 Normal/reduced G1322A S441N 2 Reduced T1465C F489L 2↔ Normal/reduced A1768T N590Y 2↔ Increased G1858A D620N 2↔ Normal 2, reduced function; ↔, no change in function; N.D. not determined.
X
ABCC12 p.Thr1291Cys 20103563:6589:235
status: NEW6586 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/Localization ABCG2 BCRP G34A V12M Normal/intracellular C376T Gln126STOP N.D. Absent C421A Q141K 2 Normal/reduced G445C A149P Normal G448A R163K Normal C496G Q166E Normal/reduced A616C I206L 2 Normal T623C F208S N.D. Reduced T742C S248P N.D. Normal C805T P269S 2 Normal T1291C F431L 2 Normal/reduced G1322A S441N 2 Reduced T1465C F489L 2 Normal/reduced A1768T N590Y 2 Increased G1858A D620N 2 Normal 2, reduced function; , no change in function; N.D. not determined.
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ABCC12 p.Thr1291Cys 20103563:6586:388
status: NEW