In Depth Variant Analysis:  c.1283C>T (p.Thr428Ile)
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c.1283C>T
p.Thr428Ile (Legacy AA No. 410)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Thr428 occupies a buried position within the FXI SP domain adjacent to His431 of the active site and may perturb either the folding or the function of the SP domain. Saunders et al 2009Residue Information:
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Substitution Analysis:
Structural Implications:
Thr428 is a buried residue  (surface accessibility value = 0 ).
Thr428 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Thr428 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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