In Depth Variant Analysis:  c.976C>T (p.Arg326Cys)
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c.976C>T
p.Arg326Cys (Legacy AA No. 308)
Variant Type:  
Point
Domain:  
Apple 4
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
4
Phenotype: 
I
Allele Count *: 
6
Allele Number *: 
251384
Allele Frequency *: 
0.000024
Variant Comments & Reference:
Introduction of a Cys residue may disrupt disulphide bridge formation. Arg326 lies close to the part of the Ap4 domain responsible for extensive non-covalent interactions between the FXI monomers. Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Arg326 is a buried residue  (surface accessibility value = 1 ).
Arg326 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
Arg326 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
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