In-Depth Variant Analysis:  c.785G>A (p.Gly262Asp)
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c.785G>A
p.Gly262Asp (Legacy AA No. 222)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 7
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
20
Phenotype: 
I
Allele Count *: 
3
Allele Number *: 
282696
Allele Frequency *: 
0.000011
Variant Comments & Reference:
Variant disrupts protein folding and may perturb FX catalytic activity due to proximity to catalytic triad.Residue Information:
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Substitution Analysis:
Structural Implications:
Gly262 is a buried residue  (surface accessibility value = 0 ).
Gly262 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
Gly262 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
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