In-Depth Variant Analysis:  c.1216G>A (p.Gly406Ser)
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c.1216G>A
p.Gly406Ser (Legacy AA No. 366)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
14
Phenotype: 
II
Allele Count *: 
1
Allele Number *: 
250966
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Introduction of Ser, a larger hydrophilic residue, may affect substrate-binding and lead to loss of FX activity (FX Nagoya II).Residue Information:
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Substitution Analysis:
Structural Implications:
Gly406 is a buried residue  (surface accessibility value = 0 ).
Gly406 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... S.
Gly406 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... S.
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