In-Depth Variant Analysis:  c.43G>A (p.Gly15Ser)

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  c.43G>A
p.Gly15Ser (Legacy AA No. -13)
Variant Type: 
Point
Domain: 
Signal Peptide
Location: 
Exon 1
Variant Effect: 
Missense
Codon Change: 
43G>A
No. of Patients Reported: 
3
Phenotype: 
NA
Allele Count *: 
1735
Allele Number *: 
282320
Allele Frequency *: 
0.006146

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
Ser
-
acyclic
small
surface
hydrophilic
neutral


Substitution Analysis:



  • Grantham Score : 56
  • PolyPhen-2 Prediction : probably damaging (SCORE: 0.999)
  • SIFT Prediction : Probably Damaging (SCORE: 0.01)
  • PROVEAN Prediction : Deleterious (SCORE: -3.449)

  • Structural Implications:


    Gly15 is in a region on the surface of the FV structure that is undefined. Hence the FV structure and its JMOL applet are not shown below.

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    Factor X Variant Database