In Depth Variant Analysis:  c.1289C>T (p.Ala430Val)
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c.1289C>T
p.Ala430Val (Legacy AA No. 412)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Homology modelling suggests that this substitution may reduce the stability of the serine protease fold, resulting in non-secretion. O'Connell et al 2005Residue Information:
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Substitution Analysis:
Structural Implications:
Ala430 is a buried residue  (surface accessibility value = 0 ).
Ala430 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... G.
Ala430 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... G.
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