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.113T>C
p.Val38Ala (Legacy AA No. 20)
Variant Type: 
Point
Domain: 
Apple 1
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Substitution of FXI-Val38 by Ala in BHK cells caused profoundly decreased FXI secretion (22% of wild-type by cells) despite the presence of only slightly reduced amounts of FXI dimer within the cells. Zivelin et al 1999 (Abstract 2), Zucker et al 2007

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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