ABCC7 p.Ala274Cys

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PMID: 19339490 [PubMed] Wellhauser L et al: "A small-molecule modulator interacts directly with deltaPhe508-CFTR to modify its ATPase activity and conformational stability."
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223 Loo et al. (2008) also found that deletion of Phe508 disrupted the chemical cross-linking that normally occurred between non-native cysteines of MSD1 (A274C) and NBD2 (Loo et al., 2008) and cross-linking between non-native cysteines introduced into transmembrane helices 6 (MSD1) and 7 or 12 (MSD2) (Wang et al., 2007).
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ABCC7 p.Ala274Cys 19339490:223:151
status: NEW
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