In-Depth Variant Analysis:  c.1271T>C (p.Val424Ala)
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c.1271T>C
p.Val424Ala (Legacy AA No. 384)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
T>C
No. of Patients Reported: 
4
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Residue Information:
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Substitution Analysis:
Structural Implications:
Val424 is a buried residue  (surface accessibility value = 0 ).
Val424 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
Val424 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
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