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.596C>T
p.Ala199Val (Legacy AA No. 181)
Variant Type: 
Point
Domain: 
Apple 3
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Ala199 is located next to the conserved Cys200 residue that forms a disulphide bridge with Cys283 connecting the two ends of the Ap3 domain. The Ala199Val substitution interferes with the disulphide bond leading to a misfolded protein. de Raucourt et al 2008

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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