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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