In Depth Variant Analysis:  c.1478C>T (p.Thr493Ile)
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c.1478C>T
p.Thr493Ile (Legacy AA No. 475)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
3
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Expression of mutant protein shows mutant is secreted poorly compared to wild type. This mutation destroys an N-linked glycosylation site. Substitution of Thr493 with Ala, Pro, Lys or Arg all abolish the site and also severely reduce level of secreted FXI:Ag. Substitution with Ser which does not abolish the site had no affect on secretion. However substitution of Asn491 with Ala which abolishes the glycosylation site also had no affect on secretion. This indicates the cause of failure to secrete FXI is not the loss of glycolsylation site. McVey et al 2005Residue Information:
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Substitution Analysis:
Structural Implications:
Thr493 is an exposed residue  (surface accessibility value = 3 ).
Thr493 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
Thr493 is in a random coil area of the FXI structure.
The DSSP assignment for this residue is ... C.
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