In-Depth Variant Analysis: c.362G>A (p.Cys121Tyr)
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c.362G>A
p.Cys121Tyr (Legacy AA No. 81)
Variant Type:
Point
Domain:
EGF-1
Location:
Exon 4
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
2
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
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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