ABCMdb

PMID: 1378801

McIntosh I, Cutting GR
Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis.
FASEB J. 1992 Jul;6(10):2775-82., [PubMed]

Sentences

No. Mutations Sentence Comment

69 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Apart from the iF508 mutation, five other mutations (G542X,3 G551D, R553X, W1282X, and N1303K) occur at frequencies greater than 1% in the majority of populations (4, 16). Login to comment 82 ABCC7 p.Gly551Asp The epithelial pattern of expression is confirmed by in situ hybridization in rat tissues by using an RNA probe gener- 'Mutations are named by using the single letter amino acid code and the amino acid number, e.g. G551D is the substitution of glycine at codon 551 by aspartic acid. Login to comment 109 ABCC7 p.Gly551Asp ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Gly542* ABCC7 p.Arg1162* CF mutations that occur at a frequency of 5% or greater in certain population groups Region Mutation Population group Frequency Reference Transmembrane 1-6 621 + 1GT 711+1GT French Canadian; Saguenay-Lac St. Jean French Canadian; Urban Quebec 0.23 0.09 72 72 NBF 1 A455E SF508 G542X G551D French Canadian; Saguenay-Lac St. Jean Worldwide Ashkenazi Jewish Spanish Scottish 0.08 0.30-0.88 0.12 0.05 0.05 72 14 73 74 75 Transmembrane 7-12 R1162X N.E. Italian 0.05 74 NBF 2 W1282X Ashkenazi Jewish 0.48 56, 73 press CFTR and in those used for transient expression studies (33). Login to comment 135 ABCC7 p.Phe508Cys The finding that substitution of Phe508 with cysteine or I1e506 with valine does not cause CF (41) supports the conclusion that proper spacing in this region is more important than the type of amino acid at certain locations (20). Login to comment 154 ABCC7 p.Gln1291His One rare mutation, Q1291H, the result of a G-`C change at the last nucleotide in exon 20, results in the use of a cryptic splice site in intron 20 that disrupts the reading frame. Login to comment 160 ABCC7 p.Gly551Asp A multicenter collaborative study comparing patients heterozygous for SF508 and the missense mutation G551D with age-and sex-matched F508 homozygotes found no clinical differences except a lower risk of meconium ileus in the compound heterozygotes (54). Login to comment 173 ABCC7 p.Gly551Asp ABCC7 p.Gly551Ser Furthermore, CFTR mutants (AF508, G551D, and G551S) expressed in Xenopus oocytes demonstrate partial function after stimulation of cAMP levels with high concentrations of the phosphodiesterase inhibitor, IBMX (60). Login to comment 180 ABCC7 p.Gly551Asp Under standard conditions, Xenopus oocytes expressing mutant CFTR-containing NBF1 mutations SF508 and G551D do not exhibit any appreciable chloride currents. Login to comment