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.1336A>G
p.Ser446Gly (Legacy AA No. 428)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
A>G
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
None
Allele Count *: 
2
Allele Number *: 
251392
Allele Frequency *: 
0.000008

Variant Comments & Reference:

One small hydrophilic amino acid (Ser) is replaced by another small, hydrophilic amino acid (Gly). Ser446 is conserved in bovine FXI and human prekallikrein, but it is not conserved in rabbit or murine FXI. Likely to be a non-causative polymorphism. Duncan et al 2008

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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