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.290G>C
p.Gly97Ala (Legacy AA No. 79)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Gly97Ala occurs in the C terminal portion of Ap1 domain, which contains the binding sites for HK, thrombin and prothrombin. Alanine at position 97 is predicted to introduce two novel hydrogen bonds with the nearby Phe59, probably affecting the local conformation of the protein. Gly97 is strictly conserved in four FXI apple domains of all species and also in kallikrein apple domains. Castaman et al 2008

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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