CYBB c.155T>C ;(p.L52P)

Variant ID: X-37642756-T-C

NM_000397.3(CYBB):c.155T>C;(p.L52P)

This variant was identified in 4 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: Leu52Pro
PubMed Link: 36241643
Variant Present in the following documents:
  • 41467_2022_33711_MOESM1_ESM.pdf
View BVdb publication page



Regulation of Derlin-1-mediated degradation of NADPH oxidase partner p22phox by thiol modification.

Redox Biology
Miyano, Kei K; Okamoto, Shuichiro S; Kajikawa, Mizuho M; Kiyohara, Takuya T; Kawai, Chikage C; Yamauchi, Akira A; Kuribayashi, Futoshi F
Publication Date: 2022-10

Variant appearance in text: CGD: L52P
PubMed Link: 36122532
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology
Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2020-02

Variant appearance in text: CYBB: L52P
PubMed Link: 31844290
Variant Present in the following documents:
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 51
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Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Blood Cells, Molecules & Diseases
Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Bustamante, Jacinta J; Kannengiesser, Caroline C; de Boer, Martin M; van Leeuwen, Karin K; Köker, M Yavuz MY; Wolach, Baruch B; Roesler, Joachim J; Malech, Harry L HL; Holland, Steven M SM; Gallin, John I JI; Stasia, Marie-José MJ
Publication Date: 2010-04-15

Variant appearance in text: CGD: 155T>C
PubMed Link: 20167518
Variant Present in the following documents:
  • Main text
View BVdb publication page