In Depth Variant Analysis:  c.1786G>A (p.Gly596Cys)
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c.1786G>A
p.Gly596Cys (Legacy AA No. 578)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Gly596Cys causes the introduction of a sulfhydryl group in the catalytic domain of FXI. Castaman et al 2008Residue Information:
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Substitution Analysis:
Structural Implications:
Gly596 is an exposed residue  (surface accessibility value = 3 ).
Gly596 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Gly596 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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