Factor V Gene (F5)

Variant Database

FVA animation
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   In-Depth Variant Analysis:  c.355T>A (p.Tyr119Asn)

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  c.355T>A
p.Tyr119Asn (Legacy AA No. 91)
Variant Type: 
Point
Domain: 
d5A1
Location: 
Exon 3
Variant Effect: 
Missense
Codon Change: 
355T>A
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Allele Count *: 
1
Allele Number *: 
250208
Allele Frequency *: 
0.000004

Variant Comments & Reference:

muscle haematoma and one bleeding episode after delivery

Patient Information: Show


Residue Information:




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


Substitution Analysis:



  • Grantham Score : 143
  • PolyPhen-2 Prediction : probably damaging (SCORE: 1.000)
  • SIFT Prediction : Probably Damaging (SCORE: 0.00)
  • PROVEAN Prediction : Deleterious (SCORE: -8.273)


    • Structural Implications:


    FV: Tyr119 is a buried residue  (surface accessibility value = 0 ).

    FVa: Tyr119 is a buried residue  (surface accessibility value = 0 ).

    Tyr119 is in a region of secondary structure within the FV domains.

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

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