In-Depth Variant Analysis:  c.871C>T (p.Arg291Trp)
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c.871C>T
p.Arg291Trp (Legacy AA No. 251)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
C>T
No. of Patients Reported: 
2
Phenotype: 
II
Allele Count *: 
6
Allele Number *: 
282488
Allele Frequency *: 
0.000021
Variant Comments & Reference:
Variant changes local electrostatic potential within FX. Also variant might alter conformation of Ca2+ binding site in the serine protease domain, potentially exposing protease domain to proteolytic cleavage (FX Padua). Legacy cDNA numbering in paper - unknown origin (c.875C>T)Residue Information:
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Substitution Analysis:
Structural Implications:
Arg291 is a buried residue  (surface accessibility value = 0 ).
Arg291 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... S.
Arg291 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... S.
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