In-Depth Variant Analysis:  c.516T>G (p.Cys172Trp)
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c.516T>G
p.Cys172Trp (Legacy AA No. 132)
Variant Type: 
Point
Domain: 
Linker
Location: 
Exon 6
Variant Effect: 
Missense
Codon Change: 
T>G
No. of Patients Reported: 
0
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
247652
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Disrupts disulfide bond formation between Cys172-Cys342, destabilizing FX structure.Residue Information:
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Substitution Analysis:
Structural Implications:
Cys172 is a buried residue  (surface accessibility value = 0 ).
Cys172 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... T.
Cys172 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... T.
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