In-Depth Variant Analysis:  c.566C>T (p.Pro189Leu)

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  c.566C>T
p.Pro189Leu (Legacy AA No. 161)
Variant Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Variant Effect: 
Missense
Codon Change: 
566C>T
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Allele Count *: 
29
Allele Number *: 
282760
Allele Frequency *: 
0.000103

Variant Comments & Reference:

mild menorrhagia

Patient Information: Show


Residue Information:




  Name Type Cyclic Size Position Hydrophobicity Charge
Wild Type
Pro
-
cyclic
medium
surface
hydrophobic
neutral
Mutated
Leu
aliphatic
acyclic
large
buried
hydrophobic
neutral


Substitution Analysis:



  • Grantham Score : 98
  • PolyPhen-2 Prediction : probably damaging (SCORE: 0.976)
  • SIFT Prediction : Probably Damaging (SCORE: 0.00)
  • PROVEAN Prediction : Deleterious (SCORE: -5.759)

  • Structural Implications:


    FV: Pro189 is a buried residue  (surface accessibility value = 0 ).

    FVa: Pro189 is a buried residue  (surface accessibility value = 0 ).

    Pro189 is in a region of secondary structure within the FV domains.

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

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