ABCMdb

PMID: 9156582

Gray MA, Winpenny JP, Verdon B, McAlroy H, Argent BE
Chloride channels and cystic fibrosis of the pancreas.
Biosci Rep. 1995 Dec;15(6):531-41., [PubMed]

Sentences

No. Mutations Sentence Comment

116 ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro The first group involve missense mutations of arginine residues within the pore-forming domain MSD1 (R117H, R334W and R347P), which collectively account for approximatley 2% of CF patients. Login to comment 117 ABCC7 p.Arg117His ABCC7 p.Pro574His ABCC7 p.Ala455Glu ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro The second group involves residues within NBD1 (A455E and P574H) which are located close to the walker A (residues 458-464) and B (residues 568-572) motifs, crucial for ATP binding. Login to comment 118 ABCC7 p.Pro574His ABCC7 p.Ala455Glu The second group involves residues within NBD1 (A455E and P574H) which are located close to the walker A (residues 458-464) and B (residues 568-572) motifs, crucial for ATP binding. Login to comment 121 ABCC7 p.Pro574His However, these channels were fully functional with normal conductance and normal, or greater than normal, Po (P574H). Login to comment 122 ABCC7 p.Pro574His However, these channels were fully functional with normal conductance and normal, or greater than normal, Po (P574H). Login to comment