In-Depth Variant Analysis:  c.353G>A (p.Gly118Asp)
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c.353G>A
p.Gly118Asp (Legacy AA No. 78)
Variant Type: 
Point
Domain: 
EGF-1
Location: 
Exon 4
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
4
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Variant disrupts folding of EGF-1 domain, disrupting overall FX protein structure.Residue Information:
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Substitution Analysis:
Structural Implications:
Gly118 is an exposed residue  (surface accessibility value = 3 ).
Gly118 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... S.
Gly118 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... S.
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