CYBB c.158C>A ;(p.A53D)

Variant ID: X-37642759-C-A

NM_000397.3(CYBB):c.158C>A;(p.A53D)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Structure of the core human NADPH oxidase NOX2.

Nature Communications
Noreng, Sigrid S; Ota, Naruhisa N; Sun, Yonglian Y; Ho, Hoangdung H; Johnson, Matthew M; Arthur, Christopher P CP; Schneider, Kellen K; Lehoux, Isabelle I; Davies, Christopher W CW; Mortara, Kyle K; Wong, Kit K; Seshasayee, Dhaya D; Masureel, Matthieu M; Payandeh, Jian J; Yi, Tangsheng T; Koerber, James T JT
Publication Date: 2022-10-14

Variant appearance in text: NOX2: Ala53Asp
PubMed Link: 36241643
Variant Present in the following documents:
  • 41467_2022_33711_MOESM1_ESM.pdf
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Crystal structures and atomic model of NADPH oxidase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Magnani, Francesca F; Nenci, Simone S; Millana Fananas, Elisa E; Ceccon, Marta M; Romero, Elvira E; Fraaije, Marco W MW; Mattevi, Andrea A
Publication Date: 2017-06-27

Variant appearance in text: NOX2: Ala53Asp
PubMed Link: 28607049
Variant Present in the following documents:
  • Main text
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Genetic disorders coupled to ROS deficiency.

Redox Biology
O'Neill, Sharon S; Brault, Julie J; Stasia, Marie-Jose MJ; Knaus, Ulla G UG
Publication Date: 2015-12

Variant appearance in text: CGD: A53D
PubMed Link: 26210446
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of putative second transmembrane region of Nox2 protein in the structural stability and electron transfer of the phagocytic NADPH oxidase.

The Journal Of Biological Chemistry
Picciocchi, Antoine A; Debeurme, Franck F; Beaumel, Sylvain S; Dagher, Marie-Claire MC; Grunwald, Didier D; Jesaitis, Algirdas J AJ; Stasia, Marie-José MJ
Publication Date: 2011-08-12

Variant appearance in text: CGD: A53D
PubMed Link: 21659519
Variant Present in the following documents:
  • Main text
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Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases
Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI
Publication Date: 2010-10-15

Variant appearance in text: CGD: 158C>A
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
View BVdb publication page