In Depth Variant Analysis:  c.1016G>T (p.Cys339Phe)
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c.1016G>T
p.Cys339Phe (Legacy AA No. 321)
Variant Type:  
Point
Domain:  
Apple 4
Codon Change: 
G>T
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
None
Allele Count *: 
566
Allele Number *: 
282858
Allele Frequency *: 
0.002001
Variant Comments & Reference:
Polymorphism. Cys339 pairs with other Cys339 of Ap4 at dimerisation - however it is not required for dimerisation. SDS-PAGE analysis revealed only monomer of FXI present, but mutant protein expressed in BHK cells and normal FXI secretion and activity was present. Meijers 1992, Zivelin et al 2002Residue Information:
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Substitution Analysis:
Structural Implications:
Cys339 is an exposed residue  (surface accessibility value = 8 ).
Cys339 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Cys339 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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