In Depth Variant Analysis:  c.484C>T (p.Arg162Cys)
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c.484C>T
p.Arg162Cys (Legacy AA No. 144)
Variant Type:  
Point
Domain:  
Apple 2
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
10
Allele Number *: 
251330
Allele Frequency *: 
0.000040
Variant Comments & Reference:
Dossenbach-Glaninger & Hopmeier 2003, Tiscia et al 2017Residue Information:
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Substitution Analysis:
Structural Implications:
Arg162 is an exposed residue  (surface accessibility value = 3 ).
Arg162 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
Arg162 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
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