In-Depth Variant Analysis:  c.90G>C (p.Gln30His)

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  c.90G>C
p.Gln30His (Legacy AA No. -11)
Variant Type: 
Point
Domain: 
Intronic Region
Location: 
Variant Effect: 
Missense
Codon Change: 
G>C
No. of Patients Reported: 
0
Phenotype: 
None
Allele Count *: 
1147
Allele Number *: 
282874
Allele Frequency *: 
0.004055

Variant Comments & Reference:

Polymorphism.

Patient Information: Show


Residue Information:




  Name Type Cyclic Size Position Hydrophobicity Charge
Wild Type
Gln
-
acyclic
large
surface
hydrophilic
neutral
Mutated
His
aromatic/basic
cyclic
large
surface
hydrophilic
postive


Substitution Analysis:



  • Grantham Score : 24
  • PolyPhen-2 Prediction : Benign (SCORE: 0.000)
  • SIFT Prediction : Tolerated (SCORE: 0.12)
  • PROVEAN Prediction : Neutral (SCORE: -1.097)

  • Structural Implications:


    Gln30 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.

    NOTE: If no Java applet appears or a Java error message is shown, please click the following LINK.


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    Factor X Variant Database