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.328T>G
p.Cys110Gly (Legacy AA No. 92)
Variant Type: 
Point
Domain: 
Apple 2
Codon Change: 
T>G
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

The Cys110Gly mutation results in the loss of the C110-C193 disulfide bond and likely impairs the structure of the Ap2 domain. Thus, this mutation could alter the assembly and secretion of the protein. Quelin et al 2005

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.**