new Factor V Variant Database

Factor V Gene (F5)

Variant Database

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   In-Depth Variant Analysis:  c.910G>A (p.Gly304Arg)

Terms with a '*' next to them are explained on the Help Page .

  c.910G>A
p.Gly304Arg (Legacy AA No. 276)
Variant Type: 
Point
Domain: 
d5A1
Location: 
Exon 6
Variant Effect: 
Missense
Codon Change: 
910G>A
No. of Patients Reported: 
1
Phenotype: 
NA
Allele Count *: 
1
Allele Number *: 
251414
Allele Frequency *: 
0.000004

Variant Comments & Reference:

NA

Patient Information: Show


Residue Information:




  Name Type Cyclic Size Position Hydrophobicity Charge
Wild Type
Gly
aliphatic
acyclic
small
surface
hydrophobic
neutral
Mutated
Arg
basic
acyclic
large
surface
hydrophilic
postive


Substitution Analysis:



  • Grantham Score : 125
  • PolyPhen-2 Prediction : probably damaging (SCORE: 0.997)
  • SIFT Prediction : Probably Damaging (SCORE: 0.00)
  • PROVEAN Prediction : Deleterious (SCORE: -7.087)


    • Structural Implications:


    FV: Gly304 is an exposed residue  (surface accessibility value = 3 ).

    FVa: Gly304 is a buried residue  (surface accessibility value = 1 ).

    Gly304 is in a region of secondary structure within the FV domains.

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

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