ABCMdb

PMID: 16113408

Guggino WB
The cystic fibrosis transmembrane regulator forms macromolecular complexes with PDZ domain scaffold proteins.
Proc Am Thorac Soc. 2004;1(1):28-32., [PubMed]

Sentences

No. Mutations Sentence Comment

130 ABCC7 p.Ser1455* Several years ago, our group reported the identification of a 6.8-kb deletion (del14a) and a nonsense mutation (S1455X) in the CFTR genes of a mother and her youngest daughter with isolated elevated sweat chloride concentrations but with no evidence of pulmonary or pancreatic disease characteristic of cystic fibrosis. Login to comment 131 ABCC7 p.Ser1455* Further study showed that the S1455X-CFTR mutant generated cAMP-activated whole-cell chloride currents similar to wild-type CFTR. These data are consistent with the relatively normal lung and pancreatic function observed in the mother and her daughter (32). Login to comment 135 ABCC7 p.Ser1455* When the S1455X mutant is expressed in polarized, heterologous epithelial cells, a significant portion accumulates at the lateral membrane. Login to comment 146 ABCC7 p.Ser1455* There are limited data on a small number of individuals with the S1455X mutation, which makes it difficult to generalize on the role of the C terminus in CFTR biology. Login to comment