ABCMdb

PMID: 11448786

Wine JJ
Cystic fibrosis: the 'bicarbonate before chloride' hypothesis.
Curr Biol. 2001 Jun 26;11(12):R463-6., [PubMed]

Sentences

No. Mutations Sentence Comment

37 ABCC7 p.Gly551Asp ABCC7 p.Ile148Thr That is true even for subjects who are homozygous for mutations I148T [13] and G551D (R. Moss, personal communication). Login to comment 42 ABCC7 p.Arg1070Gln A fifth mutation, R1070Q, was originally reported to be associated with a positive sweat test and both pancreatic sufficient and insufficient phenotypes. Login to comment 43 ABCC7 p.Arg1070Gln More complete data indicate that R1070Q patients are pancreatic insufficient, with sweat chloride values >100 mM (Aleksey Savov, personal communication). Login to comment 44 ABCC7 p.Ala800Gly ABCC7 p.Glu193Lys Finally, two other cystic fibrosis mutations cited by Choi et al. [7], A800G and E193K, occur in patients who have congenital bilateral Figure 1 Results of Choi et al. [7], replotted to show bicarbonate and chloride transport as a percentage of wild-type (WT) values (dashed line). Login to comment 49 ABCC7 p.Arg117His The value given for R117H is based on repeated measures of an individual homozygous for that mutation (our unpublished data). Login to comment 52 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Gly551Ser ABCC7 p.Gly1244Glu ABCC7 p.Gly1349Asp ABCC7 p.Ser1255Pro ABCC7 p.Ile148Thr ABCC7 p.Arg1070Gln ABCC7 p.Gly970Arg ABCC7 p.His949Tyr ABCC7 p.Ala1067Thr ABCC7 p.Gly178Arg ABCC7 p.Asp648Val ABCC7 p.His620Gln Ion transport (% WT) 42 41 69 75 >100 >100 98 + 103 100 + + 120 Pancreatic sufficient Pancreatic insufficient Bicarbonate Chloride - intermediate Chloride - high Unknown WT D648V R117H R1070Q H949Y G551S H620Q I148T A1067T G178R G970R S1255P G1244E G551D G1349D 0 0.5 1 1.5 2 2.5 Current Biology ࢞F508 Dispatch R absence of the vas deferens [16]. Login to comment 53 ABCC7 p.Asn1303Lys ABCC7 p.Glu193Lys E193K occurs with the severe mutation N1303K in a patient with 'none of the signs or symptoms of cystic fibrosis`, suggesting it is a very mild mutation. Login to comment 54 ABCC7 p.Ala800Gly A800G occurs with no other cystic fibrosis mutation. Login to comment 57 ABCC7 p.Gly551Ser The clinical status and cystic-fibrosis-related physiology of a woman homozygous for the mutation G551S has been described in detail [17]. Login to comment 63 ABCC7 p.Gly551Ser That relationship cannot be understood by their model, nor can the evidence for low chloride permeability in the nasal epithelium of the subject homozygous for the G551S mutation. Login to comment 76 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Gly1244Glu ABCC7 p.Arg1070Gln ABCC7 p.Gly970Arg ABCC7 p.Gly178Arg ABCC7 p.Asp648Val ABCC7 p.His620Gln Critical information was provided by Thilo D&#f6;rk (H620Q); R. Moss (R117H & G551D homozygotes); David Kessler, Theresa Grebe and Elizabeth Perkett (D648V); Monica Brooks and contributors to the Cystic Fibrosis Foundation Registry (G178R and G1244E); Aleksey Savov and Luba Kalaydjieva (R1070Q); and Christiane De Boeck and Harry Cuppens (G970R). Login to comment 77 ABCC7 p.Gly551Ser ABCC7 p.Ile148Thr ABCC7 p.His949Tyr Published values were found for H949Y [22] and G551S [17] and I148T [13]. Login to comment