CYBB c.1105T>C ;(p.C369R)

Variant ID: X-37663337-T-C

NM_000397.3(CYBB):c.1105T>C;(p.C369R)

This variant was identified in 8 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: Cys369Arg
PubMed Link: 36241643
Variant Present in the following documents:
  • 41467_2022_33711_MOESM1_ESM.pdf
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Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.

Journal Of Clinical Immunology
Sun, Bijun B; Zhu, Zeyu Z; Hui, Xiaoying X; Sun, Jinqiao J; Wang, Wenjie W; Ying, Wenjing W; Zhou, Qinhua Q; Yao, Haili H; Hou, Jia J; Wang, Xiaochuan X
Publication Date: 2022-10

Variant appearance in text: CGD: Cys369Arg
PubMed Link: 35796921
Variant Present in the following documents:
  • Main text
  • 10875_2022_Article_1324.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: Cys369Arg
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: C369R
PubMed Link: 26210446
Variant Present in the following documents:
  • Main text
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The dehydrogenase region of the NADPH oxidase component Nox2 acts as a protein disulfide isomerase (PDI) resembling PDIA3 with a role in the binding of the activator protein p67 (phox.).

Frontiers In Chemistry
Bechor, Edna E; Dahan, Iris I; Fradin, Tanya T; Berdichevsky, Yevgeny Y; Zahavi, Anat A; Federman Gross, Aya A; Rafalowski, Meirav M; Pick, Edgar E
Publication Date: 2015

Variant appearance in text: CGD: C369R
PubMed Link: 25699251
Variant Present in the following documents:
  • Main text
  • fchem-03-00003.pdf
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Nox NADPH oxidases and the endoplasmic reticulum.

Antioxidants & Redox Signaling
Laurindo, Francisco R M FR; Araujo, Thaís L S TL; Abrahão, Thalita B TB
Publication Date: 2014-06-10

Variant appearance in text: CGD: C369R
PubMed Link: 24386930
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: 1105T>C
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
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Regulation of NADPH oxidase activity in phagocytes: relationship between FAD/NADPH binding and oxidase complex assembly.

The Journal Of Biological Chemistry
Debeurme, Franck F; Picciocchi, Antoine A; Dagher, Marie-Claire MC; Grunwald, Didier D; Beaumel, Sylvain S; Fieschi, Franck F; Stasia, Marie-José MJ
Publication Date: 2010-10-22

Variant appearance in text: CGD: C369R
PubMed Link: 20724480
Variant Present in the following documents:
  • Main text
View BVdb publication page