In-Depth Variant Analysis: c.1276C>T (p.Arg426Cys)
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c.1276C>T
p.Arg426Cys (Legacy AA No. 386)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
2
Allele Number *:
282058
Allele Frequency *:
0.000007
Variant Comments & Reference:
Variant impedes FX secretion and inhibits FX intrinsic activation (FX Vancouver). Legacy cDNA numbering in paper - unknown origin (c.28145C>T)Residue Information:
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Substitution Analysis:
Structural Implications:
Arg426 is an exposed residue (surface accessibility value = 3 ).
Arg426 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
Arg426 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
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