In-Depth Variant Analysis:  Undefined cDNA (L9P) (p.Leu9Pro)

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  Undefined cDNA (L9P)
p.Leu9Pro (Legacy AA No. -32)
Variant Type: 
Point
Domain: 
Pre-pro leader
Location: 
Exon 1
Variant Effect: 
Missense
Codon Change: 
No. of Patients Reported: 
0
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

Variant Comments & Reference:


Patient Information: Show


Residue Information:




  Name Type Cyclic Size Position Hydrophobicity Charge
Wild Type
Leu
aliphatic
acyclic
large
buried
hydrophobic
neutral
Mutated
Pro
-
cyclic
medium
surface
hydrophobic
neutral


Substitution Analysis:



  • Grantham Score : 98
  • PolyPhen-2 Prediction : Probably Damaging (SCORE: 1.000)
  • SIFT Prediction : Probably Damaging (SCORE: 0.00)
  • PROVEAN Prediction : Deleterious (SCORE: -2.807)

  • Structural Implications:


    Leu9 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