In Depth Variant Analysis:  c.227G>A (p.Cys76Tyr)
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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 2007Residue Information:
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Substitution Analysis:
Structural Implications:
Cys76 is a buried residue  (surface accessibility value = 0 ).
Cys76 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Cys76 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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