ABCMdb

PMID: 8968585

Xie J, Drumm ML, Zhao J, Ma J, Davis PB
Human epithelial cystic fibrosis transmembrane conductance regulator without exon 5 maintains partial chloride channel function in intracellular membranes.
Biophys J. 1996 Dec;71(6):3148-56., [PubMed]

Sentences

No. Mutations Sentence Comment

204 ABCC7 p.Gly178Arg ABCC7 p.Glu193Lys ABCC7 p.Arg170Cys ABCC7 p.Leu165Ser ABCC7 p.Asp192Gly ABCC7 p.Lys166Glu ABCC7 p.Asp192Asn The facts that a splice mutation that deletes exon 5 was found to be a cystic fibrosis disease-causing mutant and that there is an array of cystic fibrosis mutations in the region encoded by exon 5 (L165S, K166E, R170C, 1175V, G178R, D192N, D192G, E193K; Fonknechten et al., 1992; Romey et al., 1994; Zielenski et al., 1991; Audrezet et al., 1994; Mercier et al., 1995; Cystic Fibrosis Mutation Data Base) suggest that exon 5 is important for the structure, function, or both of the CFTR chloride channel. Login to comment 205 ABCC7 p.Gly178Arg ABCC7 p.Glu193Lys ABCC7 p.Arg170Cys ABCC7 p.Leu165Ser ABCC7 p.Asp192Gly ABCC7 p.Lys166Glu ABCC7 p.Asp192Asn The facts that a splice mutation that deletes exon 5 was found to be a cystic fibrosis disease-causing mutant and that there is an array of cystic fibrosis mutations in the region encoded by exon 5 (L165S, K166E, R170C, 1175V, G178R, D192N, D192G, E193K; Fonknechten et al., 1992; Romey et al., 1994; Zielenski et al., 1991; Audrezet et al., 1994; Mercier et al., 1995; Cystic Fibrosis Mutation Data Base) suggest that exon 5 is important for the structure, function, or both of the CFTR chloride channel. Login to comment