In Depth Variant Analysis:  C.1196G>T (p.Trp399Leu)
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C.1196G>T
p.Trp399Leu (Legacy AA No. 381)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
G>T
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Variant likely leads to altered protein secretion. It is unlikely to have an effect on the structure of the catalytic domain as both Trp and Leu are hydrophobic amino acids. Quelin et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Trp399 is a buried residue  (surface accessibility value = 0 ).
Trp399 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
Trp399 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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