CFTR c.1768_1769delinsCT ;(p.C590L)

Variant ID: 7-117231989-TG-CT

NM_000492.3(CFTR):c.1768_1769delinsCT;(p.C590L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function.

The Journal Of Biological Chemistry
Cui, Guiying G; Freeman, Cody S CS; Knotts, Taylor T; Prince, Chengyu Z CZ; Kuang, Christopher C; McCarty, Nael A NA
Publication Date: 2013-07-12

Variant appearance in text: CFTR: C590L
PubMed Link: 23709221
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore.

Biochemistry
Alexander, Christopher C; Ivetac, Anthony A; Liu, Xuehong X; Norimatsu, Yohei Y; Serrano, Jose R JR; Landstrom, Allison A; Sansom, Mark M; Dawson, David C DC
Publication Date: 2009-10-27

Variant appearance in text: CFTR: C590L
PubMed Link: 19754156
Variant Present in the following documents:
  • Main text
  • bi901314c.pdf
View BVdb publication page



In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer.

The Embo Journal
Mense, Martin M; Vergani, Paola P; White, Dennis M DM; Altberg, Gal G; Nairn, Angus C AC; Gadsby, David C DC
Publication Date: 2006-10-18

Variant appearance in text: CFTR: C590L
PubMed Link: 17036051
Variant Present in the following documents:
  • Main text
View BVdb publication page



CFTR: Ligand exchange between a permeant anion ([Au(CN)2]-) and an engineered cysteine (T338C) blocks the pore.

Biophysical Journal
Serrano, José R JR; Liu, Xuehong X; Borg, Erik R ER; Alexander, Christopher S CS; Shaw, C Frank CF; Dawson, David C DC
Publication Date: 2006-09-01

Variant appearance in text: CFTR: C590L
PubMed Link: 16766608
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reversible silencing of CFTR chloride channels by glutathionylation.

The Journal Of General Physiology
Wang, Wei W; Oliva, Claudia C; Li, Ge G; Holmgren, Arne A; Lillig, Christopher Horst CH; Kirk, Kevin L KL
Publication Date: 2005-02

Variant appearance in text: CFTR: C590L
PubMed Link: 15657297
Variant Present in the following documents:
  • Main text
  • 200409115.pdf
View BVdb publication page