ABCMdb

PMID: 1718974

Chastre E, Di Gioia Y, Barbry P, Simon-Bouy B, Mornet E, Fanen P, Champigny G, Emami S, Gespach C
Functional insertion of the SV40 large T oncogene in cystic fibrosis intestinal epithelium. Characterization of CFI-3 cells.
J Biol Chem. 1991 Nov 5;266(31):21239-46., [PubMed]

Sentences

No. Mutations Sentence Comment

10 ABCC7 p.Asn1303Lys The manifestation of CF in this family was not related to thecommonmutation AF608,sincethis fetus was heterozygous forthesubstitutionsS649Nand N1303K. Login to comment 143 ABCC7 p.Ser549Asn This mutation changes a serine codon to asparagine within the first nucleotide binding fold and is referred to S549N. Login to comment 207 ABCC7 p.Ser549Asn The S549N mutation observed here in intestinal CFI-3 cells causes a conservative substitution between uncharged polar amino acids. Login to comment 208 ABCC7 p.Ser549Arg Preliminary data from a studyof the Jewish population in Israel and Arabic patients with CF indicatedthat other mutationsat the same position were relatively abundant, such as the S549R and S5491substitutions, both expressing a severe manifestation of the disease (21). Login to comment 209 ABCC7 p.Asn1303Lys The othermutation in the othercftr allele inCFI-3 cells involves the substitution of the acidic asparagine residue at position 1303 to a basic lysine residue (N1303K), within the second nucleotidic binding fold (34). Login to comment