In-Depth Variant Analysis:  c.405C>A (p.Asp135Glu)
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c.405C>A
p.Asp135Glu (Legacy AA No. 95)
Variant Type: 
Point
Domain: 
EGF-2
Location: 
Exon 5
Variant Effect: 
Missense
Codon Change: 
C>A
No. of Patients Reported: 
2
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Residue Information:
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Substitution Analysis:
Structural Implications:
Asp135 is an exposed residue  (surface accessibility value = 2 ).
Asp135 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... G.
Asp135 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... G.
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