In Depth Variant Analysis:  c.1480+2T>G ()
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c.1480+2T>G
(Legacy AA No. 476)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
T>G
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Zucker et al 2007Residue Information:
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Substitution Analysis:
Structural Implications:
494 is an exposed residue  (surface accessibility value = 4 ).
494 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
494 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... S.
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