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.1195T>C
p.Trp399Arg (Legacy AA No. 381)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
None
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Polymorphism. Unpublished Data

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.




  C.1196G>T
p.Trp399Leu (Legacy AA No. 381)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
G>T
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Variant likely leads to altered protein secretion. It is unlikely to have an effect on the structure of the catalytic domain as both Trp and Leu are hydrophobic amino acids. Quelin et al 2009

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.





Factor XI Variant Database
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