F8 c.6597G>A ;(p.M2199I)

Variant ID: X-154090119-C-T

NM_000132.3(F8):c.6597G>A;(p.M2199I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


FVIII proteins with a modified immunodominant T-cell epitope exhibit reduced immunogenicity and normal FVIII activity.

Blood Advances
Ettinger, Ruth A RA; Liberman, Joseph A JA; Gunasekera, Devi D; Puranik, Komal K; James, Eddie A EA; Thompson, Arthur R AR; Pratt, Kathleen P KP
Publication Date: 2018-02-27

Variant appearance in text: FVIII: M2199I
PubMed Link: 29444872
Variant Present in the following documents:
  • Main text
View BVdb publication page



Six amino acid residues in a 1200 Å2 interface mediate binding of factor VIII to an IgG4κ inhibitory antibody.

Plos One
Lin, Jasper C JC; Ettinger, Ruth A RA; Schuman, Jason T JT; Zhang, Ai-Hong AH; Wamiq-Adhami, Muhammad M; Nguyen, Phuong-Cac T PC; Nakaya-Fletcher, Shelley M SM; Puranik, Komal K; Thompson, Arthur R AR; Pratt, Kathleen P KP
Publication Date: 2015

Variant appearance in text: FVIII: M2199I
PubMed Link: 25615825
Variant Present in the following documents:
  • Main text
  • pone.0116577.pdf
View BVdb publication page



High-resolution mapping of epitopes on the C2 domain of factor VIII by analysis of point mutants using surface plasmon resonance.

Blood
Nguyen, Phuong-Cac T PC; Lewis, Kenneth B KB; Ettinger, Ruth A RA; Schuman, Jason T JT; Lin, Jasper C JC; Healey, John F JF; Meeks, Shannon L SL; Lollar, Pete P; Pratt, Kathleen P KP
Publication Date: 2014-04-24

Variant appearance in text: FVIII: M2199I
PubMed Link: 24591205
Variant Present in the following documents:
  • Main text
View BVdb publication page