In-Depth Variant Analysis:  c.4959T>A (p.Asp1653Glu)

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  c.4959T>A
p.Asp1653Glu (Legacy AA No. 1625)
Variant Type: 
Point
Domain: 
d5A3
Location: 
Exon 14
Variant Effect: 
Missense
Codon Change: 
4959T>A
No. of Patients Reported: 
1
Phenotype: 
NA
Allele Count *: 
1
Allele Number *: 
250996
Allele Frequency *: 
0.000004

Variant Comments & Reference:

NA

Patient Information: Show


Residue Information:




  Name Type Cyclic Size Position Hydrophobicity Charge
Wild Type
Asp
acidic
acyclic
medium
surface
hydrophilic
negative
Mutated
Glu
acidic
acyclic
large
surface
hydrophilic
negative


Substitution Analysis:



  • Grantham Score : 45
  • PolyPhen-2 Prediction : probably damaging (SCORE: 1.000)
  • SIFT Prediction : Tolerated (SCORE: 0.39)
  • PROVEAN Prediction : Deleterious (SCORE: -2.789)

  • Structural Implications:


    FV: Asp1653 is an exposed residue  (surface accessibility value = 3 ).

    FVa: Asp1653 is a buried residue  (surface accessibility value = 0 ).

    Asp1653 is in a random coil area of the FV structure.

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

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    Factor X Variant Database