In Depth Variant Analysis:  c.1334A>G (p.Tyr445Cys)
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c.1334A>G
p.Tyr445Cys (Legacy AA No. 427)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
A>G
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
251392
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Expressing Tyr445Cys in BHK cells resulted in abrogation of FXI secretion despite intact dimerisation, and was associated with a reduced amount of FXI in lysed cells. Zucker et al 2007Residue Information:
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Substitution Analysis:
Structural Implications:
Tyr445 is a buried residue  (surface accessibility value = 0 ).
Tyr445 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Tyr445 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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