In Depth Variant Analysis:  c.1118T>C (p.Leu373Ser)
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c.1118T>C
p.Leu373Ser (Legacy AA No. 355)
Variant Type:  
Point
Domain:  
Apple 4
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
9
Allele Number *: 
282678
Allele Frequency *: 
0.000032
Variant Comments & Reference:
May disrupt a neighbouring disulphide bridge. Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Leu373 is a buried residue  (surface accessibility value = 1 ).
Leu373 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
Leu373 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... T.
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