In-Depth Variant Analysis:  c.979C>T (p.Arg327Trp)
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c.979C>T
p.Arg327Trp (Legacy AA No. 287)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
C>T
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
7
Allele Number *: 
282566
Allele Frequency *: 
0.000025
Variant Comments & Reference:
Variant changes overall FX electrostatic potential, disrupting FVa binding.Residue Information:
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Substitution Analysis:
Structural Implications:
Arg327 is a buried residue  (surface accessibility value = 1 ).
Arg327 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
Arg327 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
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