In Depth Variant Analysis:  c.965C>T (p.Thr322Ile)
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c.965C>T
p.Thr322Ile (Legacy AA No. 304)
Variant Type:  
Point
Domain:  
Apple 4
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
3
Phenotype: 
I
Allele Count *: 
4
Allele Number *: 
251374
Allele Frequency *: 
0.000016
Variant Comments & Reference:
Thr322Ile was introduced into factor XI cDNA by site directed mutagenesis and cloned into pEXV-3. Amount of mutant protein secreted from cells in vitro is reduced. Pugh et al 1995Residue Information:
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Substitution Analysis:
Structural Implications:
Thr322 is a buried residue  (surface accessibility value = 1 ).
Thr322 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
Thr322 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
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