In-Depth Variant Analysis:  c.6629A>T (p.Gln2210Leu)

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  c.6629A>T
p.Gln2210Leu (Legacy AA No. 2182)
Variant Type: 
Point
Domain: 
d5C2
Location: 
Exon 25
Variant Effect: 
Missense
Codon Change: 
6629A>T
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
Gln
-
acyclic
large
surface
hydrophilic
neutral
Mutated
Leu
aliphatic
acyclic
large
buried
hydrophobic
neutral


Substitution Analysis:



  • Grantham Score : 113
  • PolyPhen-2 Prediction : probably damaging (SCORE: 0.971)
  • SIFT Prediction : Probably Damaging (SCORE: 0.02)
  • PROVEAN Prediction : Deleterious (SCORE: -4.900)

  • Structural Implications:


    FV: Gln2210 is an exposed residue  (surface accessibility value = 5 ).

    FVa: Gln2210 is an exposed residue  (surface accessibility value = 7 ).

    Gln2210 is in a region of secondary structure within the FV domains.

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

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    Factor X Variant Database