In Depth Variant Analysis:  c.783G>C (p.Glu261Asp)
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c.783G>C
p.Glu261Asp (Legacy AA No. 243)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
I
Allele Count *: 
15
Allele Number *: 
251328
Allele Frequency *: 
0.000060
Variant Comments & Reference:
Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Glu261 is an exposed residue  (surface accessibility value = 8 ).
Glu261 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
Glu261 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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