PMID: 10993719

Wang J, Bowman CM, Wong LJ
A novel CFTR frame-shift mutation, 935delA, in two Hispanic cystic fibrosis patients.
Mol Genet Metab. 2000 Aug;70(4):316-21., [PubMed]
Sentences
No. Mutations Sentence Comment
91 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10993719:91:270
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10993719:91:167
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10993719:91:181
status: NEW
view ABCC7 p.Gly542* details
 The two most common types of truncated CFTR proteins were present in these patients; one was missing the portion beyond the first ATP binding domain (for example, the R553X and the G542X) and the other was truncated beyond the second ATP binding domain (for example the W1282X). Login to comment 97 ABCC7 p.Arg1066Cys
X
ABCC7 p.Arg1066Cys 10993719:97:78
status: NEW
view ABCC7 p.Arg1066Cys details
 Previous studies have indicated that certain rare mutations (for example, the R1066C, the 3849 af9; 10kb C3T, and the 3876delA) occurred at a higher frequency in Hispanic CF patients (15-17). Login to comment