In Depth Variant Analysis:  c.1102G>A (p.Gly368Arg)
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c.1102G>A
p.Gly368Arg (Legacy AA No. 350)
Variant Type:  
Point
Domain:  
Apple 4
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
The Gly368Arg mutant is thought not to be secreted as the patient in which the mutation was found shows a parallel defect of both FXI:C and FXI:Ag levels. Quelin et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Gly368 is a buried residue  (surface accessibility value = 0 ).
Gly368 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Gly368 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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