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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