In-Depth Variant Analysis:  c.1393T>C (p.Ser465Pro)
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c.1393T>C
p.Ser465Pro (Legacy AA No. 425)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
T>C
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
248326
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Substitution with Pro increases rigidity and may cause break in FX helix, disrupting FX structure.Residue Information:
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Substitution Analysis:
Structural Implications:
Ser465 is a buried residue  (surface accessibility value = 0 ).
Ser465 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... H.
Ser465 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... H.
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