In Depth Variant Analysis:  c.738G>C (p.Trp246Cys)
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c.738G>C
p.Trp246Cys (Legacy AA No. 228)
Variant Type:  
Point
Domain:  
Apple 3
Codon Change: 
G>C
Variant Effect: 
Missense
No. of Patients Reported: 
8
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Introduction of an additional Cys residue within the third apple domain of FXI may result in mis-pairing of disulphide bridges resulting in an altered unstable conformation of the protein, targeting it for degradation within the cell. Also the mutant protein may be less efficiently secreted from the cell. Alhaq et al 1999Residue Information:
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Substitution Analysis:
Structural Implications:
Trp246 is a buried residue  (surface accessibility value = 0 ).
Trp246 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Trp246 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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