Search Results: 2 unique variants retrieved
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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 *:
-
References and Comments:
Liang et al 2013Variant disrupts disulfide bond formation (Cys151-Cys164), interfering with protein folding, secretion and stability.
c.452G>A
p.Cys151Tyr (Legacy AA No. 111)
Variant Type:
Point
Domain:
EGF-2
Location:
Exon 5
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Millar et al 2000Variant disrupts disulfide bond formation, interfering with protein folding and overall structure.