ABCC12 p.Thr307Cys

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PMID: 12769780 [PubMed] Toffoli G et al: "Pharmacogenetics of irinotecan."
No. Sentence Comment
261 Also T307C and G1199A are mutations causing a significant aminoacid change (Phe103Leu and Ser400Asn respectively) in important zones of the protein and possibly affecting the P-gp efficacy.
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ABCC12 p.Thr307Cys 12769780:261:5
status: NEW
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PMID: 20103563 [PubMed] Klaassen CD et al: "Xenobiotic, bile acid, and cholesterol transporters: function and regulation."
No. Sentence Comment
6832 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization ABCB1 MDR1 A61G N21D ↔ N.D. T307C F103L N.D. N.D. G1199A S400N 1↔ Normal C2005T R669C ↔ N.D. G2677T A893S 21↔ Normal G2677A A893T 1↔ Notmal T3421A S1141T 2↔ N.D. C3435T I1145I 2↔ N.D. G3751A V1251I 2 N.D. 2, reduced function; 1, increased function; ↔, no change in function; N.D. not determined.
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ABCC12 p.Thr307Cys 20103563:6832:122
status: NEW
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6829 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization ABCB1 MDR1 A61G N21D ࢒ N.D. T307C F103L N.D. N.D. G1199A S400N 1࢒ Normal C2005T R669C ࢒ N.D. G2677T A893S 21࢒ Normal G2677A A893T 1࢒ Notmal T3421A S1141T 2࢒ N.D. C3435T I1145I 2࢒ N.D. G3751A V1251I 2 N.D. 2, reduced function; 1, increased function; ࢒, no change in function; N.D. not determined.
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ABCC12 p.Thr307Cys 20103563:6829:121
status: NEW
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