PMID: 19339490

Wellhauser L, Kim Chiaw P, Pasyk S, Li C, Ramjeesingh M, Bear CE
A small-molecule modulator interacts directly with deltaPhe508-CFTR to modify its ATPase activity and conformational stability.
Mol Pharmacol. 2009 Jun;75(6):1430-8. Epub 2009 Apr 1., [PubMed]
Sentences
No. Mutations Sentence Comment
208 ABCC7 p.Val510Cys
X
ABCC7 p.Val510Cys 19339490:208:245
status: NEW
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ABCC7 p.Ala1067Cys
X
ABCC7 p.Ala1067Cys 19339490:208:326
status: NEW
view ABCC7 p.Ala1067Cys details
It is noteworthy that Loo et al. (2008) and Serohijos et al. (2008) showed that deletion of Phe508 impairs the chemical cross-linking that normally occurs between a non-native cysteine residue incorporated into NBD1, in the proximity of Phe508 (V510C), and a non-native cysteine introduced into the fourth intracellular loop (A1067C) Fig. 5. Login to comment
223 ABCC7 p.Ala274Cys
X
ABCC7 p.Ala274Cys 19339490:223:151
status: NEW
view ABCC7 p.Ala274Cys details
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). Login to comment