In-Depth Variant Analysis: Undefined cDNA (C151R) (p.Cys151Arg)
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Undefined cDNA (C151R)
p.Cys151Arg (Legacy AA No. 111)
Variant Type:
Point
Domain:
EGF-2
Location:
Exon 5
Variant Effect:
Missense
Codon Change:
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Variant disrupts disulfide bond formation (Cys151-Cys164), interfering with protein folding, secretion and stability.Residue Information:
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Substitution Analysis:
Structural Implications:
Cys151 is a buried residue (surface accessibility value = 1 ).
Cys151 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
Cys151 is in a random coil area of the FX structure.
The DSSP assignment for this residue is ... C.
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