In-Depth Variant Analysis:  c.706G>A (p.Val236Met)
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c.706G>A
p.Val236Met (Legacy AA No. 196)
Variant Type: 
Point
Domain: 
Serine Protease
Location: 
Exon 6
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
3
Phenotype: 
II
Allele Count *: 
2
Allele Number *: 
249584
Allele Frequency *: 
0.000008
Variant Comments & Reference:
Variant may disrupt cleavage of FX activation peptide (at Arg234-Arg235), reducing FX activity (FX Hofu).Residue Information:
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Substitution Analysis:
Structural Implications:
Val236 is a buried residue  (surface accessibility value = 0 ).
Val236 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... B.
Val236 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... B.
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