In Depth Variant Analysis:  c.1782C>A (p.Ser594Arg)
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c.1782C>A
p.Ser594Arg (Legacy AA No. 576)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
C>A
Variant Effect: 
Missense
No. of Patients Reported: 
3
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Ser594 partially projects into the substrate binding cleft formed between the two subdomains of the SP domain. The replacement by Arg594 is expected to block the binding of substrate to the cleft. This interpretation was supported by energy minimization which showed that no conformational changes had occurred in the SP domain. O'Connell et al 2005Residue Information:
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Substitution Analysis:
Structural Implications:
Ser594 is a buried residue  (surface accessibility value = 0 ).
Ser594 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Ser594 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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