ABCMdb

PMID: 2210768

Vidaud M, Fanen P, Martin J, Ghanem N, Nicolas S, Goossens M
Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.
Hum Genet. 1990 Sep;85(4):446-9., [PubMed]

Sentences

No. Mutations Sentence Comment

39 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp846* ABCC7 p.Tyr913Cys Mutations and associated haplotypes in 4 French CF patients CF patient Mutation Haplotype CF52 W846X A Unknown A CF18 Y913C A AF508 B CF91 W1282X B AF508 B CF147 W1282X B Unknown C ence of heteroduplex bands indicates the existence of a point mutation; all mutations are thus easily detected in heterozygotes. Login to comment 44 ABCC7 p.Ile506Val One is probably a polymorphism, since the A-to-G substitution at position 1648 (exon 10), which replaces an isoleucine by a valine (I506V), was found in one instance on a normal chromosome. Login to comment 46 ABCC7 p.Trp846* Indeed, direct sequence determination revealed a G-to-A substitution at position 2670 of the gene coding sequence, introducing a stop codon in place of a tryptophan residue at position 846 of the protein (W846X). Login to comment 51 ABCC7 p.Tyr913Cys Sequence analysis of the shifted fragment showed a A-to-G substitution at position 2870 (Fig. 2); this changes a tyrosine to a cysteine at codon 913 in the CFTR protein (Y913C). Login to comment 53 ABCC7 p.Trp1282* We characterized a G-to-A substitution at nudeotide 3978 changing a tryptophan to a stop codon (W1282X) and destroying a MnlI recognition site. Login to comment