In Depth Variant Analysis:  c.1336A>G (p.Ser446Gly)
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c.1336A>G
p.Ser446Gly (Legacy AA No. 428)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
A>G
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
None
Allele Count *: 
2
Allele Number *: 
251392
Allele Frequency *: 
0.000008
Variant Comments & Reference:
One small hydrophilic amino acid (Ser) is replaced by another small, hydrophilic amino acid (Gly). Ser446 is conserved in bovine FXI and human prekallikrein, but it is not conserved in rabbit or murine FXI. Likely to be a non-causative polymorphism. Duncan et al 2008Residue Information:
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Substitution Analysis:
Structural Implications:
Ser446 is a buried residue  (surface accessibility value = 0 ).
Ser446 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Ser446 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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