In Depth Variant Analysis:  c.802C>T (p.Arg268Cys)
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c.802C>T
p.Arg268Cys (Legacy AA No. 250)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
5
Phenotype: 
U
Allele Count *: 
21
Allele Number *: 
282758
Allele Frequency *: 
0.000074
Variant Comments & Reference:
Bolton-Maggs et al 2003 (Abstract), Esteban et al 2017Residue Information:
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Substitution Analysis:
Structural Implications:
Arg268 is an exposed residue  (surface accessibility value = 6 ).
Arg268 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Arg268 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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