new Factor V Variant Database

Factor V Gene (F5)

Variant Database

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   In-Depth Variant Analysis:  c.1021C>T (p.Arg341Cys)

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  c.1021C>T
p.Arg341Cys (Legacy AA No. 313)
Variant Type: 
Point
Domain: 
d5A2
Location: 
Exon 7
Variant Effect: 
Missense
Codon Change: 
1021C>T
No. of Patients Reported: 
2
Phenotype: 
Asymptomatic
Allele Count *: 
215
Allele Number *: 
282768
Allele Frequency *: 
0.00076

Variant Comments & Reference:

Mild FV deficiency (>13% FV:C)

Patient Information: Show


Residue Information:




  Name Type Cyclic Size Position Hydrophobicity Charge
Wild Type
Arg
basic
acyclic
large
surface
hydrophilic
postive
Mutated
Cys
-
acyclic
medium
buried
hydrophilic
neutral


Substitution Analysis:



  • Grantham Score : 180
  • PolyPhen-2 Prediction : probably damaging (SCORE: 1.000)
  • SIFT Prediction : Probably Damaging (SCORE: 0.04)
  • PROVEAN Prediction : Deleterious (SCORE: -4.067)


    • Structural Implications:


    FV: Arg341 is a buried residue  (surface accessibility value = 1 ).

    FVa: Arg341 is an exposed residue  (surface accessibility value = 8 ).

    Arg341 is in a random coil area of the FV structure.

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

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