In Depth Variant Analysis:  c.731A>G (p.Gln244Arg)
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c.731A>G
p.Gln244Arg (Legacy AA No. 226)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
A>G
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
None
Allele Count *: 
601
Allele Number *: 
282734
Allele Frequency *: 
0.002126
Variant Comments & Reference:
This mutation is seen in compound heterzygosity but FXI:C is consistent with a partial deficiency and is likely a polymorphism. Sun et al 2001, O'Connell et al 2005, Wiewel-Verschueren et al 2017Residue Information:
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Substitution Analysis:
Structural Implications:
Gln244 is an exposed residue  (surface accessibility value = 3 ).
Gln244 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
Gln244 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
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