In-Depth Variant Analysis:  c.1012G>A (p.Val338Met)
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c.1012G>A
p.Val338Met (Legacy AA No. 298)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
9
Phenotype: 
I
Allele Count *: 
2
Allele Number *: 
282434
Allele Frequency *: 
0.000007
Variant Comments & Reference:
Variant induces a conformational change to minimise steric clash with bulky Met residue, resulting in misfolding of FX (Stuart Factor).Residue Information:
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Substitution Analysis:
Structural Implications:
Val338 is a buried residue  (surface accessibility value = 0 ).
Val338 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... B.
Val338 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... B.
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