In Depth Variant Analysis:  c.113T>C (p.Val38Ala)
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c.113T>C
p.Val38Ala (Legacy AA No. 20)
Variant Type:  
Point
Domain:  
Apple 1
Codon Change: 
T>C
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Substitution of FXI-Val38 by Ala in BHK cells caused profoundly decreased FXI secretion (22% of wild-type by cells) despite the presence of only slightly reduced amounts of FXI dimer within the cells. Zivelin et al 1999 (Abstract 2), Zucker et al 2007Residue Information:
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Substitution Analysis:
Structural Implications:
Val38 is a buried residue  (surface accessibility value = 0 ).
Val38 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Val38 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
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