PMID: 7689897

Cheadle JP, al-Jader LN, Meredith AL
A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Hum Mol Genet. 1993 Jul;2(7):1067-8., [PubMed]
Sentences
No. Mutations Sentence Comment
17 ABCC7 p.Trp846*
X
ABCC7 p.Trp846* 7689897:17:72
status: NEW
view ABCC7 p.Trp846* details
 (8), have previously described an opal termination (UGA) at this codon (W846X), as a result of a G to A substitution at nucleic acid position 2670. Login to comment 19 ABCC7 p.Trp846*
X
ABCC7 p.Trp846* 7689897:19:7
status: NEW
view ABCC7 p.Trp846* details
 Unlike W846X, W846X1 does alter a restriction enzyme site, thereby providing a convenient means of detection. Login to comment