In-Depth Variant Analysis:  c.214G>C (p.Glu72Gln)
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c.214G>C
p.Glu72Gln (Legacy AA No. 32)
Variant Type: 
Point
Domain: 
Gla domain
Location: 
Exon 2
Variant Effect: 
Missense
Codon Change: 
G>C
No. of Patients Reported: 
0
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Variant prevents completion of standard FX carboxylation, disrupting FX processing, potentially destabilizing the FX mRNA or protein product(FX Tokyo).Residue Information:
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Substitution Analysis:
Structural Implications:
Glu72 is an exposed residue  (surface accessibility value = 6 ).
Glu72 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
Glu72 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
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