In-Depth Variant Analysis:  c.400G>A (p.Gly134Arg)
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c.400G>A
p.Gly134Arg (Legacy AA No. 94)
Variant Type: 
Point
Domain: 
EGF-2
Location: 
Exon 5
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
5
Phenotype: 
I
Allele Count *: 
7
Allele Number *: 
282682
Allele Frequency *: 
0.000025
Variant Comments & Reference:
Substitution of Gly with a charged residue likely disrupts FX structure and secretion.Residue Information:
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Substitution Analysis:
Structural Implications:
Gly134 is a buried residue  (surface accessibility value = 0 ).
Gly134 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... G.
Gly134 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... G.
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