ABCMdb

PMID: 1284529

Shackleton S, Beards F, Harris A
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
Hum Mol Genet. 1992 Sep;1(6):439-40., [PubMed]

Sentences

No. Mutations Sentence Comment

14 ABCC7 p.Gln151* This would predict a 'stop' mutation at amino acid 151 of the CFTR protein instead of the normal glutamine residue (Q151X). Login to comment 16 ABCC7 p.Gln151* The fetus with the Q151X/AF508 genotype is of Mexican origin. Login to comment 18 ABCC7 p.Gln151* No small chloride ion channel activity was detected in the Q151X/AF508 cells by single channel recording techniques (Argent, Gray and Pollard, personal communication). Login to comment 20 ABCC7 p.Glu92Lys ABCC7 p.Glu92Lys The mutation was determined by direct sequencing (not shown) and found to be caused by the rare mutation G406-A (Chillon, Nunes and Estivill, personal communication) that predicts the substitution of lysine for glutamic acid at amino acid 92 (E92K). Login to comment 21 ABCC7 p.Glu92Lys The E92K mutation occurs in the paternal CF gene while the B • Figure 1. Login to comment 22 ABCC7 p.Glu92Lys Single stranded conformational polymorphism analysis of exon 4 amplified by PCR with the 4i-5 and 4i-3 primers (4) yielding a fragment of 438 bp. Panel A: Exon 4 from 9 CF patients is shown, lane a contains a patient with the E92K mutation and lane b contains the patient with the novel QI51X mutation. Login to comment 23 ABCC7 p.Arg117Cys Panel B: lane c contains the patient with the R117C mutation. Login to comment