In Depth Variant Analysis:  c.616T>C (p.Pro206Ser)
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c.616T>C
p.Pro206Ser (Legacy AA No. 188)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
2
Allele Number *: 
251354
Allele Frequency *: 
0.000008
Variant Comments & Reference:
Quelin et al 2006Residue Information:
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Substitution Analysis:
Structural Implications:
Pro206 is an exposed residue  (surface accessibility value = 5 ).
Pro206 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Pro206 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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