In-Depth Variant Analysis:  c.1169G>T (p.Cys390Phe)
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c.1169G>T
p.Cys390Phe (Legacy AA No. 350)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
G>T
No. of Patients Reported: 
3
Phenotype: 
I
Allele Count *: 
2
Allele Number *: 
250742
Allele Frequency *: 
0.000008
Variant Comments & Reference:
Variant disrupts disulfide bond formation in catalytic region (Cys390-Cys404), altering FX structure and function.Residue Information:
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Substitution Analysis:
Structural Implications:
Cys390 is a buried residue  (surface accessibility value = 0 ).
Cys390 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... H.
Cys390 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... H.
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