In-Depth Variant Analysis:  c.1631A>G (p.Gln544Arg)

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  c.1631A>G
p.Gln544Arg (Legacy AA No. 516)
Variant Type: 
Point
Domain: 
d5A2
Location: 
Exon 11
Variant Effect: 
Missense
Codon Change: 
1631A>G
No. of Patients Reported: 
1
Phenotype: 
NA
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

Variant Comments & Reference:

NA

Patient Information: Show


Residue Information:




  Name Type Cyclic Size Position Hydrophobicity Charge
Wild Type
Gln
-
acyclic
large
surface
hydrophilic
neutral
Mutated
Arg
basic
acyclic
large
surface
hydrophilic
postive


Substitution Analysis:



  • Grantham Score : 43
  • PolyPhen-2 Prediction : probably damaging (SCORE: 1.000)
  • SIFT Prediction : Tolerated (SCORE: 0.29)
  • PROVEAN Prediction : Deleterious (SCORE: -3.320)

  • Structural Implications:


    FV: Gln544 is a buried residue  (surface accessibility value = 0 ).

    FVa: Gln544 is a buried residue  (surface accessibility value = 1 ).

    Gln544 is in a region of secondary structure within the FV domains.

    The DSSP assignment for this residue is ... E.

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    Factor X Variant Database