In-Depth Variant Analysis:  c.1064C>T (p.Ala355Val)

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  c.1064C>T
p.Ala355Val (Legacy AA No. 327)
Variant Type: 
Point
Domain: 
d5A2
Location: 
Exon 7
Variant Effect: 
Missense
Codon Change: 
1064C>T
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
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
Ala
aliphatic
acyclic
small
buried
hydrophobic
neutral
Mutated
Val
aliphatic
acyclic
medium
buried
hydrophobic
neutral


Substitution Analysis:



  • Grantham Score : 64
  • PolyPhen-2 Prediction : probably damaging (SCORE: 0.992)
  • SIFT Prediction : Probably Damaging (SCORE: 0.00)
  • PROVEAN Prediction : Deleterious (SCORE: -3.477)

  • Structural Implications:


    FV: Ala355 is a buried residue  (surface accessibility value = 0 ).

    FVa: Ala355 is a buried residue  (surface accessibility value = 0 ).

    Ala355 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