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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