Factor XI Gene (F11)

Variant Database

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

  Search Results: 2 unique variants retrieved



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

  c.1796G>A
p.Cys599Tyr (Legacy AA No. 581)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Disrupts the Cys571-Cys599 bond in the catalytic domain of FXIa. Esteban et al 2017

Patient Information: Show


Structural Interpretation:

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  c.1797T>A
p.Cys599* (Legacy AA No. 581)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
T>A
Variant Effect: 
Nonsense
No. of Patients Reported: 
2
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

This mutation disrupts the Cys571-Cys599 bond in the catalytic domain of FXIa. In addition this disulphide bond is located near the third amino acid (Ser575) implicated in the catalytic triad of FXIa, so this disruption may interfere with FXIa catalytic activity. Mutation also results in heterodimer trapping. Quelin et al 2004, Duga & Salomon 2013

Patient Information: Show


Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.





Factor XI Variant Database
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