In-Depth Variant Analysis:  c.1262G>A (p.Gly421Asp)
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c.1262G>A
p.Gly421Asp (Legacy AA No. 381)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
13
Phenotype: 
II
Allele Count *: 
5
Allele Number *: 
282144
Allele Frequency *: 
0.000018
Variant Comments & Reference:
Bulky charged nature of Asp side-chain disrupts key active site interactions, disrupting FX activity and function.Residue Information:
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Substitution Analysis:
Structural Implications:
Gly421 is a buried residue  (surface accessibility value = 0 ).
Gly421 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
Gly421 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
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