In-Depth Variant Analysis:  c.910G>A (p.Glu304Lys)
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c.910G>A
p.Glu304Lys (Legacy AA No. 264)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
G>A
No. of Patients Reported: 
3
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
251188
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Substitution of negatively charged residue for positively charged residue.Residue Information:
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Substitution Analysis:
Structural Implications:
Glu304 is an exposed residue  (surface accessibility value = 4 ).
Glu304 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
Glu304 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
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