In Depth Variant Analysis:  c.1849T>G (p.Trp617Arg)
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c.1849T>G
p.Trp617Arg (Legacy AA No. 599)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
T>G
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Trp617 is a buried residue  (surface accessibility value = 0 ).
Trp617 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
Trp617 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
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