In Depth Variant Analysis:  c.1634G>A (p.Cys545Tyr)
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c.1634G>A
p.Cys545Tyr (Legacy AA No. 527)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
251462
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Expression of Cys545Tyr in BHK cells revealed intact dimerisation, a reduced amount of FXI in lysed cells and total lack of secretion from the cells. Zucker et al 2007Residue Information:
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Substitution Analysis:
Structural Implications:
Cys545 is a buried residue  (surface accessibility value = 0 ).
Cys545 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
Cys545 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
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