In-Depth Variant Analysis:  c.212T>C (p.Phe71Ser)
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c.212T>C
p.Phe71Ser (Legacy AA No. 31)
Variant Type: 
Point
Domain: 
Gla domain
Location: 
Exon 2
Variant Effect: 
Missense
Codon Change: 
T>C
No. of Patients Reported: 
9
Phenotype: 
I
Allele Count *: 
1
Allele Number *: 
251428
Allele Frequency *: 
0.000004
Variant Comments & Reference:
Variant likely induces conformational change and destabilizes FX protein. Legacy cDNA numbering in Au paper - Leytus et al 1986 (c.237T>C)Residue Information:
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Substitution Analysis:
Structural Implications:
Phe71 is a buried residue  (surface accessibility value = 1 ).
Phe71 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... H.
Phe71 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... H.
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