In-Depth Variant Analysis:  c.140A>G (p.Glu47Gly)
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c.140A>G
p.Glu47Gly (Legacy AA No. 7)
Variant Type: 
Point
Domain: 
Gla domain
Location: 
Exon 2
Variant Effect: 
Missense
Codon Change: 
A>G
No. of Patients Reported: 
2
Phenotype: 
II
Allele Count *: 
2
Allele Number *: 
251494
Allele Frequency *: 
0.000008
Variant Comments & Reference:
Variant has no effect on FX synthesis or secretion but disrupts Gla domain interactions(FX St Louis II). Legacy cDNA numbering in paper - unknown origin (c.1200A>G)Residue Information:
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Substitution Analysis:
Structural Implications:
Glu47 is an exposed residue  (surface accessibility value = 7 ).
Glu47 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... H.
Glu47 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... H.
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