new Factor XI Variant Database

Factor XI Gene (F11)

Variant Database

FXI (2F83) animation with variants
FXI (2F83) animation


   In Depth Variant Analysis:  c.764G>A (p.Cys255Tyr)

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  c.764G>A
p.Cys255Tyr (Legacy AA No. 237)

Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:

Expression studies showed that although mutant protein was synthesised in BHK transfected cells, it was not secreted. The medium of cells transfected with recombinant Cys255Tyr contained 3% of factor XI antigen secreted by normal cells but no demonstrable factor XI activity. The Cys255Tyr mutation disrupts the C226-C255 bond in Ap3. Zivelin et al 2002

Patient Information: Show



Residue Information:




  Name Type Cyclic Size Position Hydrophobicity Charge
Wild Type
Cys
-
acyclic
medium
buried
hydrophilic
neutral
Mutated
Tyr
aromatic
cyclic
large
surface
hydrophobic
neutral


Substitution Analysis:



  • Grantham Score : 194
  • PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.999)
  • SIFT Prediction : Probably Damaging (SCORE: 0.00)
  • PROVEAN Prediction : Deleterious (SCORE: -7.032)


    • Structural Implications:


    Cys255 is a buried residue  (surface accessibility value = 0 ).

    Cys255 is in a region of secondary structure within the FXI domains.

    The DSSP assignment for this residue is ... E.

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    Factor XI Variant Database
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