In Depth Variant Analysis:  c.756A>T (p.Arg252Ser)
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c.756A>T
p.Arg252Ser (Legacy AA No. 234)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
A>T
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
U
Allele Count *: 
1
Allele Number *: 
251152
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Arg252 is an exposed residue  (surface accessibility value = 3 ).
Arg252 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
Arg252 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
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