CFTR c.1717_1719delinsGAG ;(p.S573E)

Variant ID: 7-117230444-TCT-GAG

NM_000492.3(CFTR):c.1717_1719delinsGAG;(p.S573E)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Acting on the CFTR Membrane-Spanning Domains Interface Rescues Some Misfolded Mutants.

International Journal Of Molecular Sciences
Baatallah, Nesrine N; Elbahnsi, Ahmad A; Chevalier, Benoit B; Castanier, Solène S; Mornon, Jean-Paul JP; Pranke, Iwona I; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I; Callebaut, Isabelle I; Hinzpeter, Alexandre A
Publication Date: 2022-12-19

Variant appearance in text: CFTR: S573E
PubMed Link: 36555865
Variant Present in the following documents:
  • Main text
  • ijms-23-16225.pdf
View BVdb publication page



Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One
Ivey, Gabrianne G; Youker, Robert T RT
Publication Date: 2020

Variant appearance in text: CFTR: S573E
PubMed Link: 31978131
Variant Present in the following documents:
  • Main text
  • pone.0227668.pdf
View BVdb publication page



Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences.

Cell
Mendoza, Juan L JL; Schmidt, André A; Li, Qin Q; Nuvaga, Emmanuel E; Barrett, Tyler T; Bridges, Robert J RJ; Feranchak, Andrew P AP; Brautigam, Chad A CA; Thomas, Philip J PJ
Publication Date: 2012-01-20

Variant appearance in text: CFTR: S573E
PubMed Link: 22265409
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Walker B motif of the second nucleotide-binding domain (NBD2) of CFTR plays a key role in ATPase activity by the NBD1-NBD2 heterodimer.

The Biochemical Journal
Stratford, Fiona L L FL; Ramjeesingh, Mohabir M; Cheung, Joanne C JC; Huan, Ling-Jun LJ; Bear, Christine E CE
Publication Date: 2007-01-15

Variant appearance in text: CFTR: S573E
PubMed Link: 16989640
Variant Present in the following documents:
  • Main text
View BVdb publication page



On the mechanism of MgATP-dependent gating of CFTR Cl- channels.

The Journal Of General Physiology
Vergani, Paola P; Nairn, Angus C AC; Gadsby, David C DC
Publication Date: 2003-01

Variant appearance in text: CFTR: S573E
PubMed Link: 12508051
Variant Present in the following documents:
  • Main text
  • 20028673.pdf
View BVdb publication page