ABCMdb

PMID: 7682984

Guillermit H, Jehanne M, Quere I, Audrezet MP, Mercier B, Ferec C
A novel mutation in exon 3 of the CFTR gene.
Hum Genet. 1993 Apr;91(3):233-5., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Gly91Arg ABCC7 p.Gly91Arg By this process, we have detected a new missense mutation, G91R, which results in an arginine for glycine at codon 91. Login to comment 3 ABCC7 p.Gly91Arg Three affected patients with a AF508/G91R genotype are pancreatic sufficient. Login to comment 37 ABCC7 p.Gly91Arg G91R was found on two chromosomes among the 87 analysed and was associated with haplotype C in both cases (KMI9 = 1; XV2c = 2). Login to comment 39 ABCC7 p.Gly91Arg Pattern of G91R mutation in denaturing gradient gel electrophoresis (gradient 0/50). Login to comment 42 ABCC7 p.Gly91Arg Result of the sequencing of the exon 3 PCR product, the sequence of the mutated allele G91R, by the dideoxy method according to Sanger et al. (1977) displayed this genotype, as one of the above cases had an affected sibling. Login to comment 57 ABCC7 p.Gly91Arg In this study, we have reported a new mutation located in exon 3 (G91R) of three patients, two of whom are siblings. Login to comment 59 ABCC7 p.Gly91Arg All these patients carry the same genotype, are compound heterozygotes AF508/G91R and are pancreatic sufficient. Login to comment 60 ABCC7 p.Gly551Asp ABCC7 p.Val520Phe ABCC7 p.Arg560Thr Most of the missense mutations so far reported in the first NBF (G551D, V520F, R560T, etc.) result in a severe phenotype. Login to comment 62 ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu The missense mutation G85E (Zielenski et al. 1991b), which results in a glutamic acid for a glycine at position 85 of the first transmembrane domain produces very mild symptoms of the disease, despite the radical change in amino acid sequence (Chalkley and Harris 1991). Login to comment 63 ABCC7 p.Arg117His ABCC7 p.Pro574His ABCC7 p.Ala455Glu ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro Other missense mutations reported by Kristidis et al. (1991) as being located in the transmembrane domain, i.e. R117H (exon 4), R334W (exon 7), R347P (exon 7), A455E (exon 9) and P574H (exon 12), are associated with pancreatic sufficiency; these observations are consistent with the genetic hypothesis that pancreatic sufficiency is a 235 dominant phenotypic trait associated with about 10% of the CF alleles. Login to comment 65 ABCC7 p.Gly91Arg Some point mutations located in the transmembrane domain, such as the G91R mutation that we have described in this paper, are good candidates for being associated with mild forms of the disease. Login to comment