In-Depth Variant Analysis:  c.333C>A (p.Ser111Arg)

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  c.333C>A
p.Ser111Arg (Legacy AA No. 83)
Variant Type: 
Point
Domain: 
d5A1
Location: 
Exon 3
Variant Effect: 
Missense
Codon Change: 
333C>A
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
Ser
-
acyclic
small
surface
hydrophilic
neutral
Mutated
Arg
basic
acyclic
large
surface
hydrophilic
postive


Substitution Analysis:



  • Grantham Score : 110
  • PolyPhen-2 Prediction : probably damaging (SCORE: 1.000)
  • SIFT Prediction : Probably Damaging (SCORE: 0.00)
  • PROVEAN Prediction : Deleterious (SCORE: -4.096)

  • Structural Implications:


    FV: Ser111 is a buried residue  (surface accessibility value = 0 ).

    FVa: Ser111 is a buried residue  (surface accessibility value = 0 ).

    Ser111 is in a region of secondary structure within the FV domains.

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

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    Factor X Variant Database