In Depth Variant Analysis:  c.1275G>C (p.Trp425Cys)
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c.1275G>C
p.Trp425Cys (Legacy AA No. 407)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
5
Allele Number *: 
282812
Allele Frequency *: 
0.000018
Variant Comments & Reference:
Kravtsov et al 2004, de Raucourt et al 2008Residue Information:
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Substitution Analysis:
Structural Implications:
Trp425 is a buried residue  (surface accessibility value = 0 ).
Trp425 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Trp425 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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