ABCMdb

PMID: 1375961

Super M
The gene defect in cystic fibrosis and clinical applications of the knowledge.
J R Soc Med. 1992;85 Suppl 19:6-8., [PubMed]

Sentences

No. Mutations Sentence Comment

27 ABCC7 p.Gly542* One of the stop mutations, G542X with the 49% ofpatients demonstrating homozygosity occurring in compound heterozygote form with AF5N for AF5N. Login to comment 33 ABCC7 p.Gly551Asp males with absence of the vas deferens; analysis of Most mutations associated with significant CF have the genotype in DNA extracted froa nasal polyps involved the putative nucleotide -binding folds, removed at operation showed an excess of the especially the first fold. -Numerically exon 11 has mutation G551D. Login to comment 35 ABCC7 p.Trp1282* The remains by far the commonest mutation discovered question is whether the heterozygote with the other in all studied populations except in Ashkenazi Jews CFTR gene apparently nxormal may result in these where, interestingly, an exon 20 mutation, W1282X, features or whether a minor mutation, eg in a comprises 60%. Login to comment 36 ABCC7 p.Gly551Asp Other ethnic differences have been biologically relatively inactive part of the gene, for observed with the exon 11 mutation, G551D being instance in the intramural portion may explain the fairly prevalent in those of Celtic origin. Login to comment 44 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg553* 337 resulting in amino-acid substitutions (eg G551D, AF5w 61 glycine substituted 'by aspartic acid),* in stop-codon AA 6 (includes 3 homozygotes, G551D) point mutations (eg R553X-arginine substituted by AF"We? Login to comment 45 ABCC7 p.Trp1282* ABCC7 p.Gly542* 83 a stop codon or G542X or W1282X), insertions at Al? Login to comment 51 ABCC7 p.Gly551Asp ABCC7 p.Gly542* ABCC7 p.Arg560Thr Factors outside the gene seem to be associated with differing 1008 818 81.15% levels ofseverity and, ofcourse, one must remember G551D 215* 34 2.986 differing environmental influences such as time of G542X 203* 11 1.02% diagnosis, vigour oftreatment and social class which R560T 113* 6 1.00% may play a role. Login to comment 52 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys Compound heterozygotes for AFN N1303K 118* 6 0.96% and G551D or W1282X are no better off than DI507 117* 5 0.81% homozygotes for AF5. Login to comment 53 ABCC7 p.Gly551Asp ABCC7 p.Arg117His On the other hand homo- R117H 116* 4 0.65% zygotes for G551D have milder disease but are 621+1 159* 10 1.19% pancreatic insufficient. Login to comment 54 ABCC7 p.Arg117His ABCC7 p.Trp1282* Compound heterozygotes for W1282X 159* 1 0.24% AF5N and R117H however do have milder disease. Login to comment 55 ABCC7 p.Arg117His ABCC7 p.Val520Phe ABCC7 p.Gly85Glu V520F 63* 3 0.90% This supports a crucial role for the nucleotide binding G85E 40* 2 0.48% folds in determining severity-R117H is in exon 3, Total 91.99% part ofthe intramural anchoringprotein presumably not playing a major role in ion transport. Login to comment