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.1016G>T
p.Cys339Phe (Legacy AA No. 321)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
G>T
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
None
Allele Count *: 
566
Allele Number *: 
282858
Allele Frequency *: 
0.002001

Variant Comments & Reference:

Polymorphism. Cys339 pairs with other Cys339 of Ap4 at dimerisation - however it is not required for dimerisation. SDS-PAGE analysis revealed only monomer of FXI present, but mutant protein expressed in BHK cells and normal FXI secretion and activity was present. Meijers 1992, Zivelin et al 2002

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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