ABCMdb

PMID: 7517933

Fearon K, McClendon V, Bonetti B, Bedwell DM
Premature translation termination mutations are efficiently suppressed in a highly conserved region of yeast Ste6p, a member of the ATP-binding cassette (ABC) transporter family.
J Biol Chem. 1994 Jul 8;269(27):17802-8., [PubMed]

Sentences

No. Mutations Sentence Comment

35 ABCC7 p.Arg553* ABCC7 p.Gly542* CFTR was identified as the protein that isdefective in thedisease cystic fibrosis (CF)(13-15).Currently, over 230 CFTR mutations havebeen found that cause CF (16).Among this largecollection of mutations aretwo that result in in-frameopal (UGA) termination codons at glycine codon 542 (G542X) andarginine codon 553 (R553X) of CFTR (see Fig. 1).Both of these mutationsoccur near a highly conserved LSGGQ sequence motif that is shared by all members of the ABC transporter family. Login to comment 194 ABCC7 p.Arg553* For example, a stop mutation atthe corresponding position of CFTR (R553X) results in the disease cystic fibrosis. Login to comment