PMID: 23540394

Altamura N, Castaldo R, Finotti A, Breveglieri G, Salvatori F, Zuccato C, Gambari R, Panin GC, Borgatti M
Tobramycin is a suppressor of premature termination codons.
J Cyst Fibros. 2013 Dec;12(6):806-11. doi: 10.1016/j.jcf.2013.02.007. Epub 2013 Mar 27., [PubMed]
Sentences
No. Mutations Sentence Comment
73 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 23540394:73:104
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 23540394:73:89
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 23540394:73:82
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 23540394:73:96
status: NEW
view ABCC7 p.Arg1162* details
 Discussion In CF at least 5-10% of the CF alleles carry a nonsense mutation (e.g. G542X, R553X, R1162X, W1282X; CF Mutation Analysis Consortium, http://www.genet.sickkids.on.ca/cftr/) that causes a premature arrest of translational termination thus preventing the synthesis of a full-length, often non-functional or partially functional, CFTR [4]. Login to comment