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.943G>T
p.Glu315* (Legacy AA No. 297)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
G>T
Variant Effect: 
Nonsense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Hopmeier et al 2004

Patient Information: Show


Structural Interpretation:

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




  c.943G>A
p.Glu315Lys (Legacy AA No. 297)
Variant Type: 
Point
Domain: 
Apple 4
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
11
Phenotype: 
I
Allele Count *: 
8
Allele Number *: 
282756
Allele Frequency *: 
0.000028

Variant Comments & Reference:

Expression of Glu315Lys in BHK cells revealed impaired secretion (4.5% of wild-type FXI) despite the presence of 70% of wild-type FXI antigen in cell lysate, which was shown to be a dimer by western blot analysis. Zucker et al 2007, Tiscia et al 2017

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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