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.52G>C
p.Gly18Arg (Legacy AA No. -1)
Variant Type: 
Point
Domain: 
Signal Peptide
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Signal peptide prediction analysis results showed that this mutation would disrupt the original signal peptide cutting site between -1 and +1 amino acid position, resulting in impaired secretion of the synthesised FXI protein. Wang et al 2009

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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