In Depth Variant Analysis:  c.569T>C (p.Leu190Pro)
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c.569T>C
p.Leu190Pro (Legacy AA No. 172)
Variant Type:  
Point
Domain:  
Apple 2
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
3
Allele Number *: 
249014
Allele Frequency *: 
0.000012
Variant Comments & Reference:
Wu et al 2004 (Abstract)Residue Information:
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Substitution Analysis:
Structural Implications:
Leu190 is a buried residue  (surface accessibility value = 0 ).
Leu190 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Leu190 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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