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.1856T>C
p.Leu619Pro (Legacy AA No. 601)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
251354
Allele Frequency *: 
0.000004

Variant Comments & Reference:

Leu619 belongs to the C-terminal alpha-helix of the protease domain participating to the intimate linkage of this domain to the circular platform formed by the apple domains, a notable feature of the FXI structure that has been demonstrated to have implications for FXI ligand binding. Expression studies revealed a secretion defect. Spena et al 2009

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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