In Depth Variant Analysis:  c.943G>A (p.Glu315Lys)
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c.943G>A
p.Glu315Lys (Legacy AA No. 297)
Variant Type:  
Point
Domain:  
Apple 4
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
11
Phenotype: 
I
Allele Count *: 
8
Allele Number *: 
282756
Allele Frequency *: 
0.000028
Variant Comments & Reference:
Expression of Glu315Lys in BHK cells revealed impaired secretion (4.5% of wild-type FXI) despite the presence of 70% of wild-type FXI antigen in cell lysate, which was shown to be a dimer by western blot analysis. Zucker et al 2007, Tiscia et al 2017Residue Information:
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Substitution Analysis:
Structural Implications:
Glu315 is an exposed residue  (surface accessibility value = 4 ).
Glu315 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
Glu315 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
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