CFTR c.1201T>G ;(p.W401G)

Variant ID: 7-117182154-T-G

NM_000492.3(CFTR):c.1201T>G;(p.W401G)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Structural mechanisms for defective CFTR gating caused by the Q1412X mutation, a severe Class VI pathogenic mutation in cystic fibrosis.

The Journal Of Physiology
Yeh, Jiunn-Tyng JT; Yu, Ying-Chun YC; Hwang, Tzyh-Chang TC
Publication Date: 2019-01

Variant appearance in text: CFTR: W401G
PubMed Link: 30408177
Variant Present in the following documents:
  • Main text
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The cystic fibrosis transmembrane conductance regulator is an extracellular chloride sensor.

Pflugers Archiv : European Journal Of Physiology
Broadbent, Steven D SD; Ramjeesingh, Mohabir M; Bear, Christine E CE; Argent, Barry E BE; Linsdell, Paul P; Gray, Michael A MA
Publication Date: 2015-08

Variant appearance in text: CFTR: W401G
PubMed Link: 25277268
Variant Present in the following documents:
  • Main text
  • 424_2014_Article_1618.pdf
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A single amino acid substitution in CFTR converts ATP to an inhibitory ligand.

The Journal Of General Physiology
Lin, Wen-Ying WY; Jih, Kang-Yang KY; Hwang, Tzyh-Chang TC
Publication Date: 2014-10

Variant appearance in text: CFTR: W401G
PubMed Link: 25225552
Variant Present in the following documents:
  • Main text
  • JGP_201411247.pdf
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Optimization of the degenerated interfacial ATP binding site improves the function of disease-related mutant cystic fibrosis transmembrane conductance regulator (CFTR) channels.

The Journal Of Biological Chemistry
Tsai, Ming-Feng MF; Jih, Kang-Yang KY; Shimizu, Hiroyasu H; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2010-11-26

Variant appearance in text: CFTR: W401G
PubMed Link: 20861014
Variant Present in the following documents:
  • Main text
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A stable ATP binding to the nucleotide binding domain is important for reliable gating cycle in an ABC transporter CFTR.

The Journal Of Physiological Sciences : Jps
Shimizu, Hiroyasu H; Yu, Ying-Chun YC; Kono, Koichi K; Kubota, Takahiro T; Yasui, Masato M; Li, Min M; Hwang, Tzyh-Chang TC; Sohma, Yoshiro Y
Publication Date: 2010-09

Variant appearance in text: CFTR: W401G
PubMed Link: 20628841
Variant Present in the following documents:
  • Main text
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Stable ATP binding mediated by a partial NBD dimer of the CFTR chloride channel.

The Journal Of General Physiology
Tsai, Ming-Feng MF; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2010-05

Variant appearance in text: CFTR: W401G
PubMed Link: 20421370
Variant Present in the following documents:
  • Main text
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Potentiation of disease-associated cystic fibrosis transmembrane conductance regulator mutants by hydrolyzable ATP analogs.

The Journal Of Biological Chemistry
Miki, Haruna H; Zhou, Zhen Z; Li, Min M; Hwang, Tzyh-Chang TC; Bompadre, Silvia G SG
Publication Date: 2010-06-25

Variant appearance in text: CFTR: W401G
PubMed Link: 20406820
Variant Present in the following documents:
  • Main text
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State-dependent modulation of CFTR gating by pyrophosphate.

The Journal Of General Physiology
Tsai, Ming-Feng MF; Shimizu, Hiroyasu H; Sohma, Yoshiro Y; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2009-04

Variant appearance in text: CFTR: W401G
PubMed Link: 19332621
Variant Present in the following documents:
  • Main text
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Gating of the CFTR Cl- channel by ATP-driven nucleotide-binding domain dimerisation.

The Journal Of Physiology
Hwang, Tzyh-Chang TC; Sheppard, David N DN
Publication Date: 2009-05-15

Variant appearance in text: CFTR: W401G
PubMed Link: 19332488
Variant Present in the following documents:
  • Main text
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Review. ATP hydrolysis-driven gating in cystic fibrosis transmembrane conductance regulator.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences
Muallem, Daniella D; Vergani, Paola P
Publication Date: 2009-01-27

Variant appearance in text: CFTR: W401G
PubMed Link: 18957373
Variant Present in the following documents:
  • Main text
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The two ATP binding sites of cystic fibrosis transmembrane conductance regulator (CFTR) play distinct roles in gating kinetics and energetics.

The Journal Of General Physiology
Zhou, Zhen Z; Wang, Xiaohui X; Liu, Hao-Yang HY; Zou, Xiaoqin X; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2006-10

Variant appearance in text: CFTR: W401G
PubMed Link: 16966475
Variant Present in the following documents:
  • Main text
  • jgp1280413.pdf
View BVdb publication page