In-Depth Variant Analysis:  c.295G>C (p.Gly99Arg)
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c.295G>C
p.Gly99Arg (Legacy AA No. 59)
Variant Type: 
Point
Domain: 
EGF-1
Location: 
Exon 4
Variant Effect: 
Missense
Codon Change: 
G>C
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Variant likely induces steric clash and destabilizes the FX structure. Legacy cDNA numbering in paper - unknown origin (c.285G>C)Residue Information:
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Substitution Analysis:
Structural Implications:
Gly99 is a buried residue  (surface accessibility value = 1 ).
Gly99 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
Gly99 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
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