ABCC4 p.Ser46Asn

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PMID: 17333344 [PubMed] Assaraf YG et al: "Molecular basis of antifolate resistance."
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186 Consistently, an adjacent Ser46Asn substitution in MTX-resistant mouse leukemia cells grown on leucovorin as the sole folate source, resulted in a dramatic fall in the MTX transport Vmax with a much lesser decrease in the transport Vmax for the naturally occurring folates leucovorin and 5-CH3-THF [128].
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ABCC4 p.Ser46Asn 17333344:186:26
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196 Of interest was the finding that some of the well-characterized mutations identified in antifolate-resistant cell lines in vitro including Ser46Asn were also identified in osteosarcoma patients.
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ABCC4 p.Ser46Asn 17333344:196:139
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199 In contrast, three mutations, Ser4Pro, Ser46Asn and Gly259Trp complemented the RFC null cell line and conferred only a modest level of MTX resistance. Whereas, several other mutations complemented the RFC null cell line but failed to confer any MTX resistance.
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ABCC4 p.Ser46Asn 17333344:199:39
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