In-Depth Variant Analysis:  c.1096C>T (p.Arg366Cys)
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c.1096C>T
p.Arg366Cys (Legacy AA No. 326)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
C>T
No. of Patients Reported: 
1
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
249940
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Variant likely disrupts structure of catalytic region e.g. by disrupting disulfide bond formation, diminishing FX activity (FX San Antonio). Legacy cDNA numbering in paper - Leytus et al 1986 (c.1121C>T)Residue Information:
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Substitution Analysis:
Structural Implications:
Arg366 is an exposed residue  (surface accessibility value = 2 ).
Arg366 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... B.
Arg366 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... B.
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