ABCB1 p.Ile1196Tyr
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PMID: 17373578
[PubMed]
Yoshioka S et al: "The identification of two germ-line mutations in the human breast cancer resistance protein gene that result in the expression of a low/non-functional protein."
No.
Sentence
Comment
154
Surprisingly, both the Ile residue of I1196Y P-gp and the Phe of F208S BCRP occupy the amino acid positions in the Walker B motifs of P-gp and BCRP, respectively. A number of ongoing studies in our laboratory are therefore currently focused on the mechanisms underlying the maturation and stability of mutant ABC transporters as this may have a significant impact upon the effectiveness of cancer chemotherapy regimens.
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ABCB1 p.Ile1196Tyr 17373578:154:38
status: NEW151 We recently examined the effects of a T3587G germ-line mutation in the human MDR1 gene and found that the resulting I1196Y P-glycoprotein (P-gp), that also contains an amino acid substitution within the Walker B domain, did not have ATP-binding activity (27).
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ABCB1 p.Ile1196Tyr 17373578:151:116
status: NEW