In Depth Variant Analysis:  c.1199C>T (p.Pro400Leu)

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  c.1199C>T
p.Pro400Leu (Legacy AA No. 382)

Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
3
Phenotype: 
I
Allele Count *: 
2
Allele Number *: 
251476
Allele Frequency *: 
0.000008

Variant Comments & Reference:

Saunders et al 2009

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: 1.000)
  • SIFT Prediction : Probably Damaging (SCORE: 0.00)
  • PROVEAN Prediction : Deleterious (SCORE: -7.855)

  • Structural Implications:


    Pro400 is a buried residue  (surface accessibility value = 0 ).

    Pro400 is in a random coil area of the FXI structure.

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

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    Factor XI Variant Database