ABCMdb

PMID: 11950844

Xie J, Adams LM, Zhao J, Gerken TA, Davis PB, Ma J
A short segment of the R domain of cystic fibrosis transmembrane conductance regulator contains channel stimulatory and inhibitory activities that are separable by sequence modification.
J Biol Chem. 2002 Jun 21;277(25):23019-27. Epub 2002 Apr 11., 2002-06-21 [PubMed]

Sentences

No. Mutations Sentence Comment

231 ABCC7 p.Glu725Lys One amino acid substitution, noted in a patient with CF, is reported in the CF Mutation Consortium data base in the NEG1 region (E725K). Login to comment 232 ABCC7 p.Glu826Lys ABCC7 p.Glu822Lys ABCC7 p.Glu822Lys ABCC7 p.Asp836Tyr ABCC7 p.Asp836Tyr Three mutations are reported in the NEG2 region (E822K, E826K, and D836Y), two of which were obtained from patients with cystic fibrosis (E822K and D836Y). Login to comment 233 ABCC7 p.Glu826Lys ABCC7 p.Glu822Lys Single channel studies of E822K and E826K indicate that both mutations result in reduced Po compared with wt-CFTR (34). Login to comment