In Depth Variant Analysis:  c.764G>A (p.Cys255Tyr)
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c.764G>A
p.Cys255Tyr (Legacy AA No. 237)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Expression studies showed that although mutant protein was synthesised in BHK transfected cells, it was not secreted. The medium of cells transfected with recombinant Cys255Tyr contained 3% of factor XI antigen secreted by normal cells but no demonstrable factor XI activity. The Cys255Tyr mutation disrupts the C226-C255 bond in Ap3. Zivelin et al 2002Residue Information:
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Substitution Analysis:
Structural Implications:
Cys255 is a buried residue  (surface accessibility value = 0 ).
Cys255 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Cys255 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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