In-Depth Variant Analysis:  c.1332G>A (p.Ala444Thr)
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c.1332G>A
p.Ala444Thr (Legacy AA No. 404)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
3
Phenotype: 
II
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Variant induces conformational changes, possibly disrupting the nearby disulfide bond Cys415-Cys443 and disturbing the position of the catalytic Ser419. Variant likely causes complete FX protein unfolding (FX Nottingham).Residue Information:
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Substitution Analysis:
Structural Implications:
Ala444 is a buried residue  (surface accessibility value = 0 ).
Ala444 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... S.
Ala444 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... S.
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