In Depth Variant Analysis:  c.1084G>A (p.Gly362Arg)
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c.1084G>A
p.Gly362Arg (Legacy AA No. 344)
Variant Type:  
Point
Domain:  
Apple 4
Codon Change: 
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
22
Allele Number *: 
282750
Allele Frequency *: 
0.000078
Variant Comments & Reference:
Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Gly362 is an exposed residue  (surface accessibility value = 4 ).
Gly362 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Gly362 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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