In Depth Variant Analysis:  c.1832T>G (p.Val611Gly)
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c.1832T>G
p.Val611Gly (Legacy AA No. 593)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
T>G
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
251478
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Unpublished DataResidue Information:
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Substitution Analysis:
Structural Implications:
Val611 is a buried residue  (surface accessibility value = 0 ).
Val611 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... G.
Val611 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... G.
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