Search Results: 3 unique variants retrieved
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c.226G>C
p.Cys76Arg (Legacy AA No. 58)
Variant Type:
Point
Domain:
Apple 1
Codon Change:
G>C
Variant Effect:
Missense
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Mitchell et al 2006 c.227G>A
p.Cys76Tyr (Legacy AA No. 58)
Variant Type:
Point
Domain:
Apple 1
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Abrogation of FXI secretion. This mutation disrupts the Cys76-Cys46 bond that is one of the three disulphide bonds responsible for correct folding of the Ap1 domain. Expression studies revealed intact FXI dimerization but no secretion at all from BHK cells. Zucker et al 2007 c.227G>T
p.Cys76Phe (Legacy AA No. 58)
Variant Type:
Point
Domain:
Apple 1
Codon Change:
G>T
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-