In-Depth Variant Analysis:  c.361T>C (p.Cys121Arg)
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c.361T>C
p.Cys121Arg (Legacy AA No. 81)
Variant Type: 
Point
Domain: 
EGF-1
Location: 
Exon 4
Variant Effect: 
Missense
Codon Change: 
T>C
No. of Patients Reported: 
3
Phenotype: 
I
Allele Count *: 
2
Allele Number *: 
251206
Allele Frequency *: 
0.000008
Variant Comments & Reference:
Variant disrupts disulfide bond formation (Cys121-Cys112), interfering with EGF-1 domain folding and overall protein structure.Residue Information:
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Substitution Analysis:
Structural Implications:
Cys121 is a buried residue  (surface accessibility value = 0 ).
Cys121 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... S.
Cys121 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... S.
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