In Depth Variant Analysis:  c.723C>G (p.Phe241Leu)
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c.723C>G
p.Phe241Leu (Legacy AA No. 223)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
C>G
Variant Effect: 
Missense
No. of Patients Reported: 
0
Phenotype: 
U
Allele Count *: 
19
Allele Number *: 
282784
Allele Frequency *: 
0.000067
Variant Comments & Reference:
Asselta et al 2017Residue Information:
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Substitution Analysis:
Structural Implications:
Phe241 is a buried residue  (surface accessibility value = 0 ).
Phe241 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Phe241 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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