ABCMdb

PMID: 7513291

Dean M, Santis G
Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations.
Hum Genet. 1994 Apr;93(4):364-8., [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* These studies found no significant differences in % FEV1 or age of onset of chronic sputum colonization by Pseudomonas aeruginosa between AF508/G551D, AF508/G542X, AF508/ R553X, AF508/W1282X, AF508/N1303K, AF508/1717- 1G-A, AF508/621+lG-T compound heterozygotes and AF508 homozygotes (Hamosh et al. 1991; Cystic Fibrosis Genotype Analysis Consortium 1990). Login to comment 64 ABCC7 p.Trp1282* ABCC7 p.Trp1282* In contrast, when 16 W1282X homozygotes and 22 W1282X/AF508 heterozygotes were compared, no difference was found in the disease phenotype (Shoshani et al. 1992). Login to comment 84 ABCC7 p.Arg117His In particular, the R117H molecule encodes a protein that functions as a correctly regulated chloride channel. Login to comment 87 ABCC7 p.Asp1270Asn ABCC7 p.Phe508Cys ABCC7 p.Gly576Ala Whether other missense alleles associated with CBAVD (D1270N, G576A, F508C) also encode for aberrant channel proteins remains to be determined. Login to comment