Factor XI Gene (F11)

Variant Database

FXI (2F83) animation with variants
FXI (2F83) animation

  Search Results: 1 unique variant retrieved.



Terms with a '*' next to them are explained on the Help Page .

  c.1079T>C
p.Leu360Pro (Legacy AA No. 342)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

This non-conservative change in the surface region of the Apple 4 domain, where active FXII attaches, converts hydrophobic Leu to Pro. Substitution may lead to changes in the contact surface conformation, preventing appropriate activation of FXI. Fard-Esfahani et al 2008

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.





Factor XI Variant Database
© Copyright 2003, Structural Immunology Group , University College London, Gower Street, London WC1E 6BT
**No part of this site may be copied or used in any way without permission.**