In-Depth Variant Analysis:  c.752T>C (p.Leu251Pro)
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c.752T>C
p.Leu251Pro (Legacy AA No. 211)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 7
Variant Effect: 
Missense
Codon Change: 
T>C
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Variant disrupts native FX structure yet does not fully suppress FX secretion or activity due to conservation of residue hydrophobicity.Residue Information:
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Substitution Analysis:
Structural Implications:
Leu251 is a buried residue  (surface accessibility value = 0 ).
Leu251 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
Leu251 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
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