In-Depth Variant Analysis:  c.1270G>T (p.Val424Phe)
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c.1270G>T
p.Val424Phe (Legacy AA No. 384)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
G>T
No. of Patients Reported: 
4
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
250714
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Residue 424 lies in close proximity to Ser419 of the catalytic triad, thus substitution of Val with Phe is likely to affect catalytic triad interactions, potentially impacting on FX catalytic activity.Residue Information:
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Substitution Analysis:
Structural Implications:
Val424 is a buried residue  (surface accessibility value = 0 ).
Val424 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
Val424 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
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