ABCMdb

PMID: 9879057

Gallet X, Festy F, Ducarme P, Brasseur R, Thomas-Soumarmon A
Topological model of membrane domain of the cystic fibrosis transmembrane conductance regulator.
J Mol Graph Model. 1998 Apr;16(2):72-82, 97-8., [PubMed]

Sentences

No. Mutations Sentence Comment

189 ABCC7 p.Arg334Trp ABCC7 p.Lys335Glu This is in agreement with experiments by Sheppard et al., that report that mutation R334W modifies the conductance.50 On the other hand, mutation K335E affects channel selectivity.51 We propose that K335 could be implicated in a salt bridge with E873 (H7) in model I and with E92 (H1) in model II, since those acidic residues are located at the same level in the membrane. Login to comment 193 ABCC7 p.Arg334Trp ABCC7 p.Lys335Glu This is in agreement with experiments by Sheppard et al., that report that mutation R334W modifies the conductance.50 On the other hand, mutation K335E affects channel selectivity.51 We propose that K335 could be implicated in a salt bridge with E873 (H7) in model I and with E92 (H1) in model II, since those acidic residues are located at the same level in the membrane. Login to comment 229 ABCC7 p.Asp836* Nevertheless, one paper demonstrates that mutant D836X encodes a truncated protein (up to amino acid D836, i.e., including MSD1, NBD1, and the R domain but not MSD2 and NBD2). Login to comment 232 ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347Glu ABCC7 p.Lys335Glu ABCC7 p.Lys95Asp ABCC7 p.Arg1030Glu Mutations associated with mild forms of cystic fibrosis (R117H, R334W, and R347P) implicate three of our inner pore residues in the chloride conductance.50 In other studies, basic amino acids of membrane helices were replaced by acidic residues (K95D, K335E, R347E, and R1030E). Login to comment 233 ABCC7 p.Asp836* Nevertheless, one paper demonstrates that mutant D836X encodes a truncated protein (up to amino acid D836, i.e., including MSD1, NBD1, and the R domain but not MSD2 and NBD2). Login to comment 236 ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347Glu ABCC7 p.Lys335Glu ABCC7 p.Lys95Asp ABCC7 p.Arg1030Glu Mutations associated with mild forms of cystic fibrosis (R117H, R334W, and R347P) implicate three of our inner pore residues in the chloride conductance.50 In other studies, basic amino acids of membrane helices were replaced by acidic residues (K95D, K335E, R347E, and R1030E). Login to comment