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.1507T>C
p.Ser503Pro (Legacy AA No. 485)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Ser503Pro converts hydrophilic small sized Ser to hydrophobic, large Pro in the buried region of the SP domain. Ser503 is in the random coil area of the structure, and may cause damaging structural effects. Fard-Esfahani et al 2008

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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