In-Depth Variant Analysis:  c.307G>C (p.Asp103His)
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c.307G>C
p.Asp103His (Legacy AA No. 63)
Variant Type: 
Point
Domain: 
EGF-1
Location: 
Exon 4
Variant Effect: 
Missense
Codon Change: 
G>C
No. of Patients Reported: 
3
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
Variant Comments & Reference:
Variant disrupts FX PTM (beta-hydroxylation) at residue 103, leading to loss of FX function.Residue Information:
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Substitution Analysis:
Structural Implications:
Asp103 is an exposed residue  (surface accessibility value = 4 ).
Asp103 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
Asp103 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
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