In-Depth Variant Analysis:  c.1120C>T (p.Ser374Pro)
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c.1120C>T
p.Ser374Pro (Legacy AA No. 334)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
C>T
No. of Patients Reported: 
14
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Variant reduces FX activation by FIXa and RVV-X, possibly by hindering FX recognition (FX Marseille).Residue Information:
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Substitution Analysis:
Structural Implications:
Ser374 is a buried residue  (surface accessibility value = 0 ).
Ser374 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
Ser374 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
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