new Factor V Variant Database

Factor V Gene (F5)

Variant Database

FVA animation
FV animation


   In-Depth Variant Analysis:  c.628C>A (p.Gln210Lys)

Terms with a '*' next to them are explained on the Help Page .

  c.628C>A
p.Gln210Lys (Legacy AA No. 182)
Variant Type: 
Point
Domain: 
d5A1
Location: 
Exon 5
Variant Effect: 
Missense
Codon Change: 
628C>A
No. of Patients Reported: 
2
Phenotype: 
NA
Allele Count *: 
64
Allele Number *: 
282576
Allele Frequency *: 
0.000226

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
Lys
basic
acyclic
large
surface
hydrophilic
postive


Substitution Analysis:



  • Grantham Score : 53
  • PolyPhen-2 Prediction : probably damaging (SCORE: 1.000)
  • SIFT Prediction : Tolerated (SCORE: 0.07)
  • PROVEAN Prediction : Deleterious (SCORE: -2.644)


    • Structural Implications:


    FV: Gln210 is an exposed residue  (surface accessibility value = 2 ).

    FVa: Gln210 is a buried residue  (surface accessibility value = 0 ).

    Gln210 is in a region of secondary structure within the FV domains.

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

    Hint: Left click mouse | To rotate the structure
    Hint: Rotate mousewheel | To zoom in/out the structure
    Hint: Right click mouse | to use applet control options


    Controls

    The molecule can be rotated with the mouse holding the left button and the image can be magnified using the middle mouse button. Note 7KVE is the default structure.

    To choose the structure you wish to inspect, please select the Structure at the bottom of the Options menu. If the amino acid is missing from the structure, it will not be labeled and you should select a different structure.

    Right Click on the JMOL screen for more options.

    Options

    Spacefill
    Cartoon
    Wireframe
    Trace
    Backbone
    Spin
    Background
    Disulphides
    Domains
    Alternative Colouring
    Labels
    Structure

    Right Click on the molecule's screen for more options.

    NOTE: If no Java applet appears or a Java error message is shown, please click the following LINK.


    Please click here to view the Database Statistics



    Factor X Variant Database
    © Copyright 2003, Structural Immunology Group, University College London, Gower Street, London WC1E 6BT
    **No part of this site may be copied or used in any way without permission.**