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.1178C>T
p.Ala393Val (Legacy AA No. 375)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
II
Allele Count *: 
2
Allele Number *: 
251490
Allele Frequency *: 
0.000008

Variant Comments & Reference:

Ala393Val is exposed in the SP domain on the opposite side of where the His431-Asp480-Ser575 catalytic triad at the active site is located; however, its effect is not clear from the FXI structure. Saunders et al 2009

Patient Information: Show


Structural Interpretation:

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Factor XI Variant Database
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