In Depth Variant Analysis:  c.1060G>A (p.Gly354Arg)
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c.1060G>A
p.Gly354Arg (Legacy AA No. 336)
Variant Type:  
Point
Domain:  
Apple 4
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
I
Allele Count *: 
3
Allele Number *: 
251410
Allele Frequency *: 
0.000012
Variant Comments & Reference:
Saunders et al 2005Residue Information:
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Substitution Analysis:
Structural Implications:
Gly354 is a buried residue  (surface accessibility value = 1 ).
Gly354 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
Gly354 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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