In-Depth Variant Analysis:  c.1258G>T (p.Gly420Cys)

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  c.1258G>T
p.Gly420Cys (Legacy AA No. 392)
Variant Type: 
Point
Domain: 
d5A2
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
1258G>T
No. of Patients Reported: 
11
Phenotype: 
Moderate
Allele Count *: 
1
Allele Number *: 
251382
Allele Frequency *: 
0.000004

Variant Comments & Reference:

gum bleeding and bruising, intra-abdominal bleeding after appendectomy requiring fresh-frozen plasma treatment

Patient Information: Show


Residue Information:




  Name Type Cyclic Size Position Hydrophobicity Charge
Wild Type
Gly
aliphatic
acyclic
small
surface
hydrophobic
neutral
Mutated
Cys
-
acyclic
medium
buried
hydrophilic
neutral


Substitution Analysis:



  • Grantham Score : 159
  • PolyPhen-2 Prediction : probably damaging (SCORE: 1.000)
  • SIFT Prediction : Probably Damaging (SCORE: 0.00)
  • PROVEAN Prediction : Deleterious (SCORE: -7.673)

  • Structural Implications:


    FV: Gly420 is an exposed residue  (surface accessibility value = 2 ).

    FVa: Gly420 is a buried residue  (surface accessibility value = 0 ).

    Gly420 is in a region of secondary structure within the FV domains.

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

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