In Depth Variant Analysis:  c.1432G>A (p.Gly478Arg)
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c.1432G>A
p.Gly478Arg (Legacy AA No. 460)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
11
Phenotype: 
I
Allele Count *: 
26
Allele Number *: 
251454
Allele Frequency *: 
0.000103
Variant Comments & Reference:
Mutant protein is expressed at levels comparable to normal FXI, and mutant protein was not secreted. Bolton-Maggs et al 2003 (Abstract)Residue Information:
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Substitution Analysis:
Structural Implications:
Gly478 is a buried residue  (surface accessibility value = 1 ).
Gly478 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
Gly478 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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