In-Depth Variant Analysis:  c.1351A>T (p.Ile451Phe)
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c.1351A>T
p.Ile451Phe (Legacy AA No. 411)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
A>T
No. of Patients Reported: 
6
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Substitution of Ile with Phe leads to large conformational change, altering FX affinity for Na+, thereby altering FX catalytic activity (Na+ needed to convert FXa into a more enzymatically active form) (FX Leicester). Legacy cDNA numbering in paper - unknown origin (c.1354A>T)Residue Information:
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Substitution Analysis:
Structural Implications:
Ile451 is a buried residue  (surface accessibility value = 0 ).
Ile451 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
Ile451 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
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