In-Depth Variant Analysis:  Undefined cDNA (R182M) (p.Arg182Met)

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

  Undefined cDNA (R182M)
p.Arg182Met (Legacy AA No. 142)
Variant Type: 
Point
Domain: 
Linker
Location: 
Exon 6
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
Arg
basic
acyclic
large
surface
hydrophilic
postive
Mutated
Met
-
acyclic
large
buried
hydrophobic
neutral


Substitution Analysis:



  • Grantham Score : 91
  • PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.999)
  • SIFT Prediction : Tolerated (SCORE: 0.08)
  • PROVEAN Prediction : Deleterious (SCORE: -2.869)

  • Structural Implications:


    Arg182 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.


    Please click here to view the Database Statistics



    Factor X Variant Database