CFTR c.1529T>C ;(p.V510A)

Variant ID: 7-117199654-T-C

NM_000492.3(CFTR):c.1529T>C;(p.V510A)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Spatial positioning of CFTR's pore-lining residues affirms an asymmetrical contribution of transmembrane segments to the anion permeation pathway.

The Journal Of General Physiology
Gao, Xiaolong X; Hwang, Tzyh-Chang TC
Publication Date: 2016-05

Variant appearance in text: CFTR: V510A
PubMed Link: 27114613
Variant Present in the following documents:
  • Main text
  • JGP_201511557.pdf
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Functional Architecture of the Cytoplasmic Entrance to the Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Pore.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2015-06-19

Variant appearance in text: CFTR: V510A
PubMed Link: 25944907
Variant Present in the following documents:
  • Main text
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Metal bridges illuminate transmembrane domain movements during gating of the cystic fibrosis transmembrane conductance regulator chloride channel.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2014-10-10

Variant appearance in text: CFTR: V510A
PubMed Link: 25143385
Variant Present in the following documents:
  • Main text
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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: V510A
PubMed Link: 23709221
Variant Present in the following documents:
  • Main text
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Regulation of activation and processing of the cystic fibrosis transmembrane conductance regulator (CFTR) by a complex electrostatic interaction between the regulatory domain and cytoplasmic loop 3.

The Journal Of Biological Chemistry
Wang, Guangyu G; Duan, Dayue Darrel DD
Publication Date: 2012-11-23

Variant appearance in text: CFTR: V510A
PubMed Link: 23060444
Variant Present in the following documents:
  • Main text
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Relative movements of transmembrane regions at the outer mouth of the cystic fibrosis transmembrane conductance regulator channel pore during channel gating.

The Journal Of Biological Chemistry
Wang, Wuyang W; Linsdell, Paul P
Publication Date: 2012-09-14

Variant appearance in text: CFTR: V510A
PubMed Link: 22843683
Variant Present in the following documents:
  • Main text
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Role of the juxtamembrane region of cytoplasmic loop 3 in the gating and conductance of the cystic fibrosis transmembrane conductance regulator chloride channel.

Biochemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-05-15

Variant appearance in text: CFTR: V510A
PubMed Link: 22545782
Variant Present in the following documents:
  • Main text
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Alternating access to the transmembrane domain of the ATP-binding cassette protein cystic fibrosis transmembrane conductance regulator (ABCC7).

The Journal Of Biological Chemistry
Wang, Wuyang W; Linsdell, Paul P
Publication Date: 2012-03-23

Variant appearance in text: CFTR: V510A
PubMed Link: 22303012
Variant Present in the following documents:
  • Main text
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Alignment of transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

The Journal Of General Physiology
Wang, Wuyang W; El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2011-08

Variant appearance in text: CFTR: V510A
PubMed Link: 21746847
Variant Present in the following documents:
  • Main text
  • JGP_201110605.pdf
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The inhibition mechanism of non-phosphorylated Ser768 in the regulatory domain of cystic fibrosis transmembrane conductance regulator.

The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2011-01-21

Variant appearance in text: CFTR: V510A
PubMed Link: 21059651
Variant Present in the following documents:
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State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.

The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2010-12-24

Variant appearance in text: CFTR: V510A
PubMed Link: 20952391
Variant Present in the following documents:
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Dual roles of the sixth transmembrane segment of the CFTR chloride channel in gating and permeation.

The Journal Of General Physiology
Bai, Yonghong Y; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2010-09

Variant appearance in text: CFTR: V510A
PubMed Link: 20805575
Variant Present in the following documents:
  • Main text
  • JGP_201010480.pdf
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Changes in accessibility of cytoplasmic substances to the pore associated with activation of the cystic fibrosis transmembrane conductance regulator chloride channel.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2010-10-15

Variant appearance in text: CFTR: V510A
PubMed Link: 20675380
Variant Present in the following documents:
  • Main text
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Regulation of conductance by the number of fixed positive charges in the intracellular vestibule of the CFTR chloride channel pore.

The Journal Of General Physiology
Zhou, Jing-Jun JJ; Li, Man-Song MS; Qi, Jiansong J; Linsdell, Paul P
Publication Date: 2010-03

Variant appearance in text: CFTR: V510A
PubMed Link: 20142516
Variant Present in the following documents:
  • Main text
  • JGP_200910327.pdf
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ATP-independent CFTR channel gating and allosteric modulation by phosphorylation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Wei W; Wu, Jianping J; Bernard, Karen K; Li, Ge G; Wang, Guangyu G; Bevensee, Mark O MO; Kirk, Kevin L KL
Publication Date: 2010-02-23

Variant appearance in text: CFTR: V510A
PubMed Link: 20133716
Variant Present in the following documents:
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Cysteine-independent inhibition of the CFTR chloride channel by the cysteine-reactive reagent sodium (2-sulphonatoethyl) methanethiosulphonate.

British Journal Of Pharmacology
Li, M-S MS; Demsey, A F A AF; Qi, J J; Linsdell, P P
Publication Date: 2009-07

Variant appearance in text: CFTR: V510A
PubMed Link: 19466983
Variant Present in the following documents:
  • Main text
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Processing mutations disrupt interactions between the nucleotide binding and transmembrane domains of P-glycoprotein and the cystic fibrosis transmembrane conductance regulator (CFTR).

The Journal Of Biological Chemistry
Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM
Publication Date: 2008-10-17

Variant appearance in text: CFTR: V510A
PubMed Link: 18708637
Variant Present in the following documents:
  • Main text
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