In Depth Variant Analysis:  c.1178C>T (p.Ala393Val)
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c.1178C>T
p.Ala393Val (Legacy AA No. 375)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
II
Allele Count *: 
2
Allele Number *: 
251490
Allele Frequency *: 
0.000008
Variant Comments & Reference:
Ala393Val is exposed in the SP domain on the opposite side of where the His431-Asp480-Ser575 catalytic triad at the active site is located; however, its effect is not clear from the FXI structure. Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Ala393 is an exposed residue  (surface accessibility value = 4 ).
Ala393 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... B.
Ala393 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... B.
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