ABCMdb

PMID: 11171377

Milewski MI, Mickle JE, Forrest JK, Stafford DM, Moyer BD, Cheng J, Guggino WB, Stanton BA, Cutting GR
A PDZ-binding motif is essential but not sufficient to localize the C terminus of CFTR to the apical membrane.
J Cell Sci. 2001 Feb;114(Pt 4):719-26., [PubMed]

Sentences

No. Mutations Sentence Comment

114 ABCC7 p.Ser1455* This truncation corresponds to the naturally occurring CFTR mutation S1455X that was associated with sweat gland dysfunction (Mickle et al., 1998). Login to comment 144 ABCC7 p.Ser1455* (a) Loss of apical localization of GFP-CFTR 1370-1480 ∆ag construct (green) after truncation of last 26 amino acids (S1455X), truncation of last three amino acids (∆TRL), or substitution of last three amino acids with alanines (TRL→AAA). Login to comment