ABCC7 p.Tyr1424Phe

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PMID: 10652362 [PubMed] Weixel KM et al: "The carboxyl terminus of the cystic fibrosis transmembrane conductance regulator binds to AP-2 clathrin adaptors."
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99 GST-CT-Y1424F was able to bind AP-2 complexes with as much efficiency as wild-type GST-CT, suggesting that the phenylalanine at position 1424 is capable of participating in the endocytosis signal (Fig. 6B).
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ABCC7 p.Tyr1424Phe 10652362:99:7
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101 In contrast, no significant difference was observed between GST-CT-Y1424F and wild-type constructs. A Peptide Derived from the Cytoplasmic Tail of CFTR Inhibits CFTR-AP-2 Binding-To investigate further the role of the carboxyl terminus of CFTR as a docking site for AP-2 adaptors, a peptide representing a cytoplasmic domain sequence of CFTR was tested for its ability to block AP-2 binding to GST-CT constructs. A 19-residue peptide, Y19P (CQQFLVIEEN- KVRQYDSIQ), was synthesized corresponding to amino acids 1410-1428 of CFTR.
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ABCC7 p.Tyr1424Phe 10652362:101:67
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154 20 ␮g of Y1424F protein (lane 1), Y1424A (lane 2), wild-type (lane 3), or GST alone (lane 4) were incubated with purified adaptors as described.
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ABCC7 p.Tyr1424Phe 10652362:154:16
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169 Such is also the case for CFTR, as a Y1424F mutation resulted in a construct that was unimpaired in its ability to bind AP-2 adaptors.
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ABCC7 p.Tyr1424Phe 10652362:169:37
status: NEW
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