In Depth Variant Analysis:  c.797G>A (p.Ser266Asn)
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c.797G>A
p.Ser266Asn (Legacy AA No. 248)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
II
Allele Count *: 
71
Allele Number *: 
282734
Allele Frequency *: 
0.000251
Variant Comments & Reference:
Mutant protein activates FXI normally in purified protein system and has normal activity, however activation of mutant protein by thrombin in presence of activated platelets is slower than normal. The mutation is associated with reduction in affinity for platelets. Sun et al 2001Residue Information:
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Substitution Analysis:
Structural Implications:
Ser266 is an exposed residue  (surface accessibility value = 5 ).
Ser266 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
Ser266 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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