In-Depth Variant Analysis:  c.574G>C (p.Gly192Arg)

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  c.574G>C
p.Gly192Arg (Legacy AA No. 152)
Variant Type: 
Point
Domain: 
Activation peptide
Location: 
Exon 6
Variant Effect: 
Missense
Codon Change: 
G>C
No. of Patients Reported: 
0
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
248970
Allele Frequency *: 
0.000004

Variant Comments & Reference:


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 : Possibly Damaging (SCORE: 0.682)
  • SIFT Prediction : Tolerated (SCORE: 0.14)
  • PROVEAN Prediction : Neutral (SCORE: 0.116)

  • Structural Implications:


    Gly192 is in a region on the surface of the FX structure that is undefined. Hence the FX structure and its JMOL applet are not shown below.

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    Factor X Variant Database