EGF c.98T>C ;(p.L33P)

Variant ID: 4-110834589-T-C

NM_001963.4(EGF):c.98T>C;(p.L33P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Naturally occurring point mutation Cys460Trp located in the I-EGF1 domain of integrin β3 alters the binding of some anti-HPA-1a antibodies.

Transfusion
Holzwarth, Sarah Theresa ST; Bayat, Behnaz B; Zhu, Jieqing J; Phuangtham, Roongaroon R; Fischer, Lars L; Boeckelmann, Doris D; Röder, Lida L; Berghöfer, Heike H; Schmidt, Silke S; Bein, Gregor G; Santoso, Sentot S
Publication Date: 2020-09

Variant appearance in text: EGF: Leu33Pro
PubMed Link: 32770549
Variant Present in the following documents:
  • Main text
View BVdb publication page



High-resolution mapping of the polyclonal immune response to the human platelet alloantigen HPA-1a (PlA1).

Blood Advances
Zhi, Huiying H; Ahlen, Maria Therese MT; Thinn, Aye Myat Myat AMM; Weiler, Hartmut H; Curtis, Brian R BR; Skogen, Bjørn B; Zhu, Jieqing J; Newman, Peter J PJ
Publication Date: 2018-11-13

Variant appearance in text: EGF: Leu33Pro
PubMed Link: 30413435
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of Plasminogen Activator Inhibitor Type 1 in Pathologies of Female Reproductive Diseases.

International Journal Of Molecular Sciences
Ye, Yao Y; Vattai, Aurelia A; Zhang, Xi X; Zhu, Junyan J; Thaler, Christian J CJ; Mahner, Sven S; Jeschke, Udo U; von Schönfeldt, Viktoria V
Publication Date: 2017-07-29

Variant appearance in text: EGF: L33P
PubMed Link: 28758928
Variant Present in the following documents:
  • Main text
  • ijms-18-01651.pdf
View BVdb publication page



Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression.

Plos One
Laguerre, Michel M; Sabi, Essa E; Daly, Martina M; Stockley, Jacqueline J; Nurden, Paquita P; Pillois, Xavier X; Nurden, Alan T AT
Publication Date: 2013

Variant appearance in text: EGF: L33P
PubMed Link: 24236036
Variant Present in the following documents:
  • Main text
  • pone.0078683.pdf
View BVdb publication page



Molecular insight into human platelet antigens: structural and evolutionary conservation analyses offer new perspective to immunogenic disorders.

Transfusion
Landau, Meytal M; Rosenberg, Nurit N
Publication Date: 2011-03

Variant appearance in text: EGF: Leu33Pro
PubMed Link: 20804530
Variant Present in the following documents:
  • Main text
  • trf0051-0558.pdf
View BVdb publication page