ABCMdb

PMID: 1384326

Macek M Jr, Ladanyi L, Burger J, Reis A
Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation.
Am J Hum Genet. 1992 Nov;51(5):1173-4., [PubMed]

Sentences

No. Mutations Sentence Comment

25 ABCC7 p.Phe508Cys In theirpaper, two AF508 /F508C compound heterozygous individuals were reported. Login to comment 26 ABCC7 p.Phe508Cys ABCC7 p.Phe508Cys Clinical and epithelial physiological studies in both cases were normal, suggesting that the substitution of cysteine for phenylalanine at position 508, the F508C mutation, is benign. Login to comment 31 ABCC7 p.Phe508Cys Subsequent direct sequencing ofthe PCR product confirmed that this clinically normal father is a compound heterozygote for the AF508 /F508C mutations. Login to comment 33 ABCC7 p.Phe508Cys Since the pattern of the AF508/F508C heteroduplexwas notpublished, it is likelythat similar cases can be overseen during the widely performed AF508 mutation screening by PAGE. Login to comment 42 ABCC7 p.Phe508Cys Lane 3 contains a PCR product from a AF508/F508C compound heterozygote individual with homoduplexes as in AF508 heterozygotes but with slightly different heteroduplexes. Login to comment